Displaying publications 61 - 80 of 309 in total

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  1. Pediatric cardiology in Asia
    Vongprateep C
    Cor Vasa, 1981;23(1):4-7.
    PMID: 7238054
    The problems of pediatric cardiology in Asia can be summarized as follows. In the countries like India, Indonesia, Malaysia, Pakistan and some other countries especially with government support like Thailand, the priority is primary health care. Except in Japan, cardiac care for children is not well supported financially. Training in pediatric cardiology is not readily available. Consequently small numbers of pediatric cardiologists, pediatric cardiac surgeons and active centres are available even in Japan. It is importannt to reduce the incidence of rheumatic fever and rheumatic heart disease by prevention of streptococcal infections and to increase the standard of living and environment. Transportation and referral system diagnosis, and treatment and follow-up is a special problem in neonatal care in relation to heart disease. Concentration of physicians, medical schools and cardiac centers in urban areas, old customs and poor understanding of people about the treatability and preventability of heart diseases in children complicate the improvement in the management of children with heart diseases.
    Matched MeSH terms: Continental Population Groups
  2. A comparative study on radiographic analysis of impacted third molars among three ethnic groups of patients attending AIMST Dental Institute, Malaysia
    Kanneppady SK, Balamanikandasrinivasan, Kumaresan R, Sakri SB
    Dent Res J (Isfahan), 2013 May;10(3):353-8.
    PMID: 24019804
    The patterns of facial growth, jaw and tooth size are inherited and are likely to differ among population and races. Aim of this study is to evaluate and compare the pattern of third molar (3M) impaction among three different ethnic groups (Chinese, Indian, Malay) of patients attending AIMST Dental Institute, Malaysia.
    Matched MeSH terms: Continental Population Groups
  3. Development of the other-race effect in Malaysian-Chinese infants
    Tham DSY, Woo PJ, Bremner JG
    Dev Psychobiol, 2019 01;61(1):107-115.
    PMID: 30239984 DOI: 10.1002/dev.21783
    Little is known about how infants born and raised in a multiracial environment process own- and other-race faces. We investigated face recognition of 3- to 4-month-old (N = 36) and 8- to 9-month-old (N = 38) Chinese infants from Kuala Lumpur, Malaysia, a population that is considered multiracial, using female and male faces that are of infants' own-race (Chinese), experienced other-race (Malay) and less experienced other-race (Caucasian-White). Three- to 4-month-olds recognized own-race female faces, whereas 8- to 9-month-olds also recognized experienced other-race female faces (Malay) in addition to own-race female faces (Chinese). Furthermore, infants from this population did not show recognition for male faces at any age. This contrasts with 8- to 9-month-old British-White infants (Tham, Bremner, & Hay, ), a group that is considered single-race, who recognized female and male own-race faces. It appears that for infants born and raised in a multiracial environment, there is a developmental shift from a female-based own-race recognition advantage to a female-based own- and experienced other-race advantage that may relate to infants' social and caregiving experiences.
    Matched MeSH terms: Continental Population Groups*
  4. Fulltext Diabetes in Central America
    West KM, Kalbfleisch JM
    Diabetes, 1970 Sep;19(9):656-63.
    PMID: 5469119 DOI: 10.2337/diab.19.9.656
    The prevalence of diabetes in Central America was somewhat greater than in East Pakistan and Malaya, less
    than in Uruguay and Venezuela, and substantially less than in affluent societies such as the United States. Differences in prevalence among Central American countries were modest but probably significant in some instances. In all Central American countries diabetes was more common in females but this difference was probably attributable to the greater adiposity of the women. Age-matched populations from eleven different countries of three continents have now been tested using standardized methods. Prevalence of diabetes varied greatly, and differences were more related to environment than to race. These results support the hypothesis that environmental factors can increase or reduce prevalence by several-fold.
    Matched MeSH terms: Continental Population Groups
  5. The discriminative ability of waist circumference, body mass index and waist-to-hip ratio in identifying metabolic syndrome: Variations by age, sex and race
    Kee CC, Mohd Ghazali S, Lim KH, Subenthiran S, Teh CH, Lim KK, et al.
    Diabetes Metab Syndr, 2015 Apr-Jun;9(2):74-8.
    PMID: 25819369 DOI: 10.1016/j.dsx.2015.02.006
    OBJECTIVES: Many studies have suggested that there is variation in the capabilities of BMI, WC and WHR in predicting cardiometabolic risk and that it might be confounded by gender, ethnicity and age group. The objective of this study is to examine the discriminative abilities of body mass index (BMI), waist circumference (WC) and waist-hip ratio (WHR) to predict two or more non-adipose components of the metabolic syndrome (high blood pressure, hypertriglyceridemia, low high density lipoprotein-cholesterol and high fasting plasma glucose) among the adult Malaysian population by gender, age group and ethnicity.
    METHODS: Data from 2572 respondents (1044 men and 1528 women) aged 25-64 years who participated in the Non Communicable Disease Surveillance 2005/2006, a population-based cross sectional study, were analysed. Participants' socio-demographic details, anthropometric indices (BMI, WC and WHR), blood pressure, fasting lipid profile and fasting glucose level were assessed. Receiver operating characteristics curves analysis was used to evaluate the ability of each anthropometric index to discriminate MetS cases from non-MetS cases based on the area under the curve.
    RESULTS: Overall, WC had better discriminative ability than WHR for women but did not perform significantly better than BMI in both sexes, whereas BMI was better than WHR in women only. Waist circumference was a better discriminator of MetS compared to WHR in Malay men and women. Waist circumference and BMI performed better than WHR in Chinese women, men aged 25-34 years and women aged 35-44 years.
    CONCLUSIONS: The discriminative ability of BMI and WC is better than WHR for predicting two or more non-adipose components of MetS. Therefore, either BMI or WC measurements are recommended in screening for metabolic syndrome in routine clinical practice in the effort to combat cardiovascular disease and type II diabetes mellitus.
    Copyright © 2015 Diabetes India. Published by Elsevier Ltd. All rights reserved.
    KEYWORDS: Adult; Body mass index; Metabolic syndrome; Waist circumference; Waist–hip ratio
    Study name: Malaysia Non-Communicable Disease Surveillance-1 (MyNCDS-1) survey
    Matched MeSH terms: Continental Population Groups
  6. Fulltext The eight-item Morisky Medication Adherence Scale MMAS: translation and validation of the Malaysian version
    Al-Qazaz HKh, Hassali MA, Shafie AA, Sulaiman SA, Sundram S, Morisky DE
    Diabetes Res Clin Pract, 2010 Nov;90(2):216-21.
    PMID: 20832888 DOI: 10.1016/j.diabres.2010.08.012
    AIMS:
    To translate and examine the psychometric properties of the Malaysian version of the Morisky Medication Adherence Scale (MMAS) among patients with type 2 diabetes.

    METHODS:
    A standard "forward-backward" procedure was used to translate MMAS into Malay language. It was later validated on a convenience sample of 223 type 2 diabetes outpatients between May and September 2009. Reliability was tested for internal consistency. Validity was confirmed using convergent and known group validity.

    RESULTS:
    Employing the recommended scoring method, the mean±SD of MMAS scores was 6.13±1.72. Moderate internal consistency was found (Cronbach's α=0.675), the test-retest reliability value was 0.816 (p<0.001). A positive correlation between the eight- and four-item MMAS was found (r=0.792; p<0.01). A significant relationship between MMAS categories and HbA1c categories (χ(2)=20.261; p≥0.001) was found. The MMAS sensitivity and specificity, with positive and negative predictive values were 77.61%, 45.37%, 46.84% and 76.56%, respectively.

    CONCLUSIONS:
    The findings of this validation study indicate that the Malaysian version of the MMAS is a reliable and valid measure of medication adherence which can now be used.
    Matched MeSH terms: Continental Population Groups
  7. Homeostasis model assessment in a population with mixed ethnicity: the 1992 Singapore National Health Survey
    Tai ES, Lim SC, Chew SK, Tan BY, Tan CE
    Diabetes Res Clin Pract, 2000 Aug;49(2-3):159-68.
    PMID: 10963828 DOI: 10.1016/s0168-8227(00)00152-2
    We studied insulin resistance and beta-cell function with reference to ethnic group, glucose tolerance and other coronary artery disease risk factors in a cross section of the Singapore population which comprises Chinese, Malays and Asian Indians. 3568 individuals aged 18-69 were examined. Blood pressure, anthropometric data, blood lipids, glucose and insulin were assayed in the fasting state. Glucose and serum insulin were measured 2 h after an oral glucose challenge. Insulin resistance and beta-cell function were calculated using homeostasis model assessment. Asian Indians had higher insulin resistance than Chinese or Malays. Impaired glucose tolerance (IGT) and diabetes mellitus (DM) were associated with greater insulin resistance and impaired beta-cell function compared to normal glucose tolerance (NGT). Insulin resistance was positively correlated with blood pressure in women and total cholesterol, LDL cholesterol and triglyceride in both men and women. It was negatively correlated with HDL cholesterol and LDL/apolipoprotein B ratio. beta-cell function showed no significant correlations with the cardiovascular risk factors studied. It appears that both impaired beta-cell function and insulin resistance are important for the development of hyperglycemia whereas insulin resistance alone seems more important in the development of coronary artery disease as it correlates with several known coronary artery disease risk factors.
    Matched MeSH terms: Continental Population Groups
  8. The effect of cassava leave intake on thyroid hormone and urinary iodine
    Osman BA, Ng ML, Bakar AA, Khalid BA
    East Afr Med J, 1993 May;70(5):314-5.
    PMID: 8306912
    The effect of consuming large amounts of cassava leaves on thyroid function and urinary iodine was studied. Twenty volunteers were given 200 gm of boiled cassava leaves twice a day for 12 consecutive days. Thyroid hormones triiodothyronine and thyroxine were significantly lower by 9 days. Urinary iodine excretion was also significantly decreased. Cassava leaves, consumed in large amounts by aborigines, probably caused goitres by decreasing iodine absorption.
    Matched MeSH terms: Continental Population Groups
  9. Fulltext Obesity in multiracial schizophrenia patients receiving outpatient treatment in a regional tertiary hospital in malaysia
    Norlelawati AT, Kartini A, Ramli M, Norsidah K, Wan Azizi WS, Tariq AR
    East Asian Arch Psychiatry, 2012 Jun;22(2):49-56.
    PMID: 22714874
    OBJECTIVES. Obesity is an issue of concern among patients with schizophrenia as it is a co-morbid condition that is closely related to metabolic syndrome. The present study assessed the correlation of body mass index with antipsychotic use among multiracial schizophrenia outpatients. The study also compared the patients' body mass index with Malaysian Adult Nutrition Survey (MANS) data.
    METHODS. A total of 216 participants were recruited into a cross-sectional study conducted over 5 months, from December 2010 to April 2011. Body weight and height were measured using the standard methods. Demographic data and treatment variables were gathered through interview or review of the medical records.
    RESULTS. There were differences in mean body mass index between men and women (p = 0.02) and between Malay, Chinese and Indian races (p = 0.04). Stratified by sex, age, and race, the body mass index distributions of the patients were significantly different to those of the reference MANS population. The prevalence of obesity among patients was more than 2-fold greater than among the reference population in all variables. Although body mass index distribution was related to antipsychotic drugs (χ(2) = 33.42; p = 0.04), obesity could not be attributed to any specific drug.
    CONCLUSION. The prevalence of obesity among patients with schizophrenia was significantly greater than that in the healthy Malaysian population, and affects the 3 main races in Malaysia.
    Study site: Psychiatry Clinic, Tengku Ampuan Afzan Hospital, Kuantan, Pahang, Malaysia.
    Matched MeSH terms: Continental Population Groups
  10. Fulltext Rickettsial seropositivity in the indigenous community and animal farm workers, and vector surveillance in Peninsular Malaysia
    Kho KL, Koh FX, Hasan LI, Wong LP, Kisomi MG, Bulgiba A, et al.
    Emerg Microbes Infect, 2017 Apr 12;6(4):e18.
    PMID: 28400593 DOI: 10.1038/emi.2017.4
    Rickettsioses are emerging zoonotic diseases that are often neglected in many countries in Southeast Asia. Rickettsial agents are transmitted to humans through exposure to infected arthropods. Limited data are available on the exposure of indigenous community and animal farm workers to the aetiological agents and arthropod vectors of rickettsioses in Peninsular Malaysia. Serological analysis of Rickettsia conorii and Rickettsia felis was performed for 102 individuals from the indigenous community at six rural villages and 87 workers from eight animal farms in Peninsular Malaysia in a cross-sectional study. The indigenous community had significantly higher seropositivity rates for R. conorii (P<0.001) and R. felis (P<0.001), as compared to blood donors from urban (n=61). Similarly, higher seropositivity rates for R. conorii (P=0.046) and R. felis (P<0.001) were noted for animal farm workers, as compared to urban blood donors. On the basis of the sequence analysis of gltA, ompA and ompB, various spotted fever group rickettsiae closely related to R. raoultii, R. heilongjiangensis, R. felis-like organisms, R. tamurae, Rickettsia sp. TCM1, R. felis, Rickettsia sp. LON13 and R. hulinensis were identified from tick/flea samples in animal farms, indigenous villages and urban areas. This study describes rickettsial seropositivity of the Malaysian indigenous community and animal farm workers, and provides molecular evidence regarding the presence of rickettsial agents in ticks/fleas infesting domestic animals in Peninsular Malaysia.
    Matched MeSH terms: Population Groups*
  11. Poverty within watershed and environmentally protected areas: the case of the indigenous community in Peninsular Malaysia
    Kari FB, Masud MM, Yahaya SR, Saifullah MK
    Environ Monit Assess, 2016 Mar;188(3):173.
    PMID: 26887312 DOI: 10.1007/s10661-016-5162-1
    "Indigenous people" have been acknowledged as among the poorest and most socio-economically and culturally marginalized all over the world. This paper explores the socio-economic status of the indigenous people and their poverty profile within watershed and environmentally protected areas in Peninsular Malaysia. The findings of the study indicate that the "indigenous community" is likely to be poor if they live in environmentally sensitive and unprotected areas as compared to families under the new resettlement scheme. Inadequate access to basic education and employment contributed significantly to their poor economic status. The findings further reveal that the indigenous community is facing difficulties in receiving access and support in terms of basic needs such as housing, education, economic livelihood, and other social infrastructure. Moreover, the regulatory structure for the management of watershed areas as well as the emphasis for commodity crops such as palm oil and natural rubber have indirectly contributed toward the poverty level of the indigenous people.
    Matched MeSH terms: Population Groups*
  12. Waste management practices in developing countries: a socio-economic perspective
    Jagun ZT, Daud D, Ajayi OM, Samsudin S, Jubril AJ, Rahman MSA
    Environ Sci Pollut Res Int, 2023 Nov;30(55):116644-116655.
    PMID: 35867301 DOI: 10.1007/s11356-022-21990-5
    Growing populations, expanding economies, industrialisation, and urbanisation pose a problem for waste management in developing countries. Their waste management methods, on the other hand, are not as efficient as they could be. Most developing countries' current waste management practices do not fully conform to developed countries' best practices for meeting socioeconomic goals. As a result, the importance of waste management in developing countries has grown in recent years. In order to highlight the socioeconomic perspectives of waste management practices, the present study examines the existing literature, policies, information, and records on waste management in developing nations. The findings indicate that essential socioeconomic factors such as finances, population density, per capita income, education level, policies, and technology have a significant impact on waste management, which encompasses waste generation, collection, composition, and disposal/treatment. Nonetheless, waste management has a number of economic benefits, including financial stability, job creation, and community cohesion. This study will inspire further research on the need for developing nations to consider the socioeconomic benefits of proper waste management and to develop a policy plan to achieve these benefits.
    Matched MeSH terms: Population Groups
  13. Knowledge, attitudes, and perceptions of epilepsy in Asia: toward a uniform study protocol
    Lim SH, Pan A
    Epilepsia, 2005;46 Suppl 1:48-9.
    PMID: 15816980
    Knowledge, attitudes, and perceptions of epilepsy (KAPE) among the public play a major role in determining the extent to which people with epilepsy can be integrated into their society.
    Matched MeSH terms: Continental Population Groups/psychology; Continental Population Groups/statistics & numerical data
  14. Attitudes toward epilepsy in East Malaysia using the Public Attitudes Toward Epilepsy (PATE) scale
    Chia ZJ, Lim KS, Fong SL, Sim RS, Rajahram GS, Narayanan V, et al.
    Epilepsy Behav, 2020 09;110:107158.
    PMID: 32512367 DOI: 10.1016/j.yebeh.2020.107158
    BACKGROUND: Epilepsy stigma is an important issue affecting people with epilepsy (PWE) in various social aspects of life. Most studies on stigma were among the metropolitan population but rarely on indigenous people. Hence, this study aimed to understand the attitudes toward epilepsy of the East Malaysians, comparing with the West Malaysians previously reported.

    METHOD: This study was performed among the indigenous people in Kuching and Sibu (Sarawak) and Kota Kinabalu (Sabah) using the Public Attitudes Toward Epilepsy (PATE) scale. A higher score indicates poorer attitude.

    RESULT: A total of 360 respondents (41.7% Kadazan-Dusun, 30.6% Bidayuh, and 24.7% Iban) aged 34.6 ± 12.6 years completed the questionnaire. They were predominantly females and had lower education level and income compared with the West Malaysians. The Sabah population had significantly lower mean scores (better attitudes) than those in Sarawak, in both personal and general domains (p 

    Matched MeSH terms: Population Groups/ethnology*; Population Groups/psychology
  15. An update of the general health status in the indigenous populations of Malaysia
    Jinam TA, Phipps ME, Indran M, Kuppusamy UR, Mahmood AA, Hong LC, et al.
    Ethn Health, 2008 Jun;13(3):277-87.
    PMID: 18568977 DOI: 10.1080/13557850801930478
    Health scenarios are constantly evolving, particularly in developing countries but little is known regarding the health status of indigenous groups in Malaysia. This study aims to elucidate the current health status in four indigenous populations in the country, who by and large been left out of mainstream healthcare developments.
    Matched MeSH terms: Population Groups*
  16. Fulltext Helicobacter pylori cagA gene variants in Malaysians of different ethnicity
    Mohamed R, Hanafiah A, Rose IM, Manaf MR, Abdullah SA, Sagap I, et al.
    Eur J Clin Microbiol Infect Dis, 2009 Jul;28(7):865-9.
    PMID: 19247698 DOI: 10.1007/s10096-009-0712-x
    We have defined DNA repeat variability in the 3'-terminus of the cagA gene of Helicobacter pylori strains from Malaysian patients of different ethnicities. We identified different alleles based on the EPIYA repeats. cagA types A-B-D and A-B-B-D are more similar to the sequence of Japanese strains, whereas cagA types A-B-C, A-B-C-C, A-B and A-C displayed similarity to strain 26695 sequences. A significant association was found between cagA genotypes and patients' ethnicity, with cagA type A-B-D being predominantly isolated from Chinese patients and cagA type A-B-C from Malays and Indians. Our data further corroborate the possibility that variant biological activity of CagA may affect the host specificity and/or pathogenicity of H. pylori.
    Matched MeSH terms: Continental Population Groups
  17. A genome-wide characterization of copy number variations in native populations of Peninsular Malaysia
    Fu R, Mokhtar SS, Phipps ME, Hoh BP, Xu S
    Eur J Hum Genet, 2018 06;26(6):886-897.
    PMID: 29476164 DOI: 10.1038/s41431-018-0120-8
    Copy number variations (CNVs) are genomic structural variations that result from the deletion or duplication of large genomic segments. The characterization of CNVs is largely underrepresented, particularly those of indigenous populations, such as the Orang Asli in Peninsular Malaysia. In the present study, we first characterized the genome-wide CNVs of four major native populations from Peninsular Malaysia, including the Malays and three Orang Asli populations; namely, Proto-Malay, Senoi, and Negrito (collectively called PM). We subsequently assessed the distribution of CNVs across the four populations. The resulting global CNV map revealed 3102 CNVs, with an average of more than 100 CNVs per individual. We identified genes harboring CNVs that are highly differentiated between PM and global populations, indicating that these genes are predominantly enriched in immune responses and defense functions, including APOBEC3A_B, beta-defensin genes, and CCL3L1, followed by other biological functions, such as drug and toxin metabolism and responses to radiation, suggesting some attributions between CNV variations and adaptations of the PM groups to the local environmental conditions of tropical rainforests.
    Matched MeSH terms: Population Groups
  18. The clandestine multiple graves in Malaysia: The first mass identification operation of human skeletal remains
    Mohd Noor MS, Khoo LS, Zamaliana Alias WZ, Hasmi AH, Ibrahim MA, Mahmood MS
    Forensic Sci Int, 2017 Sep;278:410.e1-410.e9.
    PMID: 28698062 DOI: 10.1016/j.forsciint.2017.05.014
    The first ever mass identification operation of skeletal remains conducted for the clandestine graves in Malaysia consisted of 165 individuals unearthed from 28 human trafficking transit camps located in Wang Kelian, along the Thai-Malaysia border. A DVI response was triggered in which expert teams comprising of pathologists, anthropologists, odontologists, radiologists and DNA experts were gathered at the identified operation centre. The Department of Forensic Medicine, Hospital Sultanah Bahiyah, Alor Star, Kedah, located approximately 75km away from Wang Kelian, was temporarily converted into a victim identification centre (VIC) as it is the nearest available forensic facility to the mass grave site. The mortuary operation was conducted over a period of 3 months from June to September 2015, and was divided into two phases; phase 1 involving the postmortem examination of the remains of 116 suspected individuals and for phase 2 the remains of 49 suspected individuals. The fact that the graves were of unknown individuals afforded the mass identification operation a sufficient duration of 2 weeks as preparatory phase enabling procedurals and daily victim identification workflow to be established, and the setting up of a temporary body storage for the designated mortuary. The temporary body storage has proven to be a significant factor in enabling the successful conclusion of the VIC operation to the final phase of temporary controlled burials. Recognition from two international observers, Mr. Andréas Patiño Umaña, from the International Committee of Red Cross (ICRC) and Prof. Noel Woodford from Victoria Institute of Forensic Medicine (VIFM) had proven the mortuary operation was in compliance to the international quality and standards. The overall victim identification and mortuary operation identified a number of significant challenges, in particular the management of commingled human remains as well as the compilation of postmortem data in the absence of antemortem data for future reconciliation. CF Index in this DVI operation is 9%, indicating the primary identifications in this operation were effective. Limitations and further improvements of the mass identification operation will be discussed. This paper details the planning, preparations and management of the mass identification operation on the exhumed human remains which was also a forensic humanitarian service for the dead with dignity and respect.
    Matched MeSH terms: Continental Population Groups/statistics & numerical data
  19. Performance of Willem's dental age estimation method in children: A systematic review and meta-analysis
    Mohd Yusof MYP, Wan Mokhtar I, Rajasekharan S, Overholser R, Martens L
    Forensic Sci Int, 2017 Nov;280:245.e1-245.e10.
    PMID: 28958768 DOI: 10.1016/j.forsciint.2017.08.032
    Through numerous validation and method comparison studies on different populations, the Willems method exhibited a superior accuracy. This article aims to systematically examine how accurate the application of Willems dental age method on children of different age groups and its performance based on various populations and regions. A strategic literature search of PubMed, MEDLINE, Web of Science, EMBASE and hand searching were used to identify the studies published up to September 2014 that estimated the dental age using the Willems method (modified Demirjian), with a populations, intervention, comparisons and outcomes (PICO) search strategy using MeSH keywords, focusing on the question: How much Willems method deviates from the chronological age in estimating age in children? Standardized mean differences were calculated for difference of dental age to chronological age by using random effects model. Subgroup analyses were performed to evaluate potential heterogeneity. Of 116 titles retrieved based on the standardized search strategy, only 19 articles fulfilled the inclusion criteria for quantitative analysis. The pooled estimates were separately kept as underestimation (n=7) and overestimation (n=12) of chronological age groups for both genders according to primary studies. On absolute values, females (underestimated by 0.13; 95% CI: 0.09-0.18 and overestimated by 0.27; 95% CI: 0.17-0.36) exhibited better accuracy than males (underestimated by 0.28; 95% CI: 0.14-0.42 and overestimated by 0.33; 95% CI: 0.22-0.44). For comparison purposes, the overall pooled estimate overestimated the age by 0.10 (95% CI: -0.06 to 0.26) and 0.09 (95% CI: -0.09 to 0.19) for males and females, respectively. There was no significant difference between the young and older child in subgroup analysis using omnibus test. The mean age between different regions exhibited no statistically significant. The use of Willems method is appropriate to estimate age in children considering its accuracy among different populations, investigators and age groups.
    Matched MeSH terms: Continental Population Groups
  20. Increasing the discrimination power of ancestry- and identity-informative SNP loci within the ForenSeq™ DNA Signature Prep Kit
    King JL, Churchill JD, Novroski NMM, Zeng X, Warshauer DH, Seah LH, et al.
    Forensic Sci Int Genet, 2018 09;36:60-76.
    PMID: 29935396 DOI: 10.1016/j.fsigen.2018.06.005
    The use of single nucleotide polymorphisms (SNPs) in forensic genetics has been limited to challenged samples with low template and/or degraded DNA. The recent introduction of massively parallel sequencing (MPS) technologies has expanded the potential applications of these markers and increased the discrimination power of well-established loci by considering variation in the flanking regions of target loci. The ForenSeq Signature Preparation Kit contains 165 SNP amplicons for ancestry- (aiSNPs), identity- (iiSNPs), and phenotype-inference (piSNPs). In this study, 714 individuals from four major populations (African American, AFA; East Asian, ASN; US Caucasian, CAU; and Southwest US Hispanic, HIS) previously reported by Churchill et al. [Forensic Sci Int Genet. 30 (2017) 81-92; DOI: https://doi.org/10.1016/j.fsigen.2017.06.004] were assessed using STRait Razor v2s to determine the level of diversity in the flanking regions of these amplicons. The results show that nearly 70% of loci showed some level of flanking region variation with 22 iiSNPs and 8 aiSNPs categorized as microhaplotypes in this study. The heterozygosities of these microhaplotypes approached, and in one instance surpassed, those of some core STR loci. Also, the impact of the flanking region on other forensic parameters (e.g., power of exclusion and power of discrimination) was examined. Sixteen of the 94 iiSNPs had an effective allele number greater than 2.00 across the four populations. To assess what effect the flanking region information had on the ancestry inference, genotype probabilities and likelihood ratios were determined. Additionally, concordance with the ForenSeq UAS and Nextera Rapid Capture was evaluated, and patterns of heterozygote imbalance were identified. Pairwise comparison of the iiSNP diplotypes determined the probability of detecting a mixture (i.e., observing ≥ 3 haplotypes) using these loci alone was 0.9952. The improvement in random match probabilities for the full regions over the target iiSNPs was found to be significant. When combining the iiSNPs with the autosomal STRs, the combined match probabilities ranged from 6.40 × 10-73 (ASN) to 1.02 × 10-79 (AFA).
    Matched MeSH terms: Continental Population Groups/genetics*
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