Displaying publications 401 - 420 of 1406 in total

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  1. PMID: 12277967
    PIP: The goals of the Malaysian Family Planning Program are not only to reduce population growth from 3% to 2% by 1985 and to bring the crude birth rate to 28.2 from 30.3, but to generally improve the health of the family, and to enhance the government's efforts to raise the per capita income. The work program is divided into the Creative Unit, the Media Unit, the Production Unit, and the Field Diffusion Unit. The objectives are to build up strong support from political, community, and opinion leaders, and to run educational campaigns aimed at motivating potential acceptors. The program also runs centers training medical and paramedical personnel. The program is combined with development programs for women, especially useful among the rural population.
    Matched MeSH terms: Sex Education*
  2. Shariat A, Cardoso JR, Cleland JA, Danaee M, Ansari NN, Kargarfard M, et al.
    Work, 2018;60(2):191-199.
    PMID: 29865103 DOI: 10.3233/WOR-182738
    BACKGROUND: Malaysian office workers often experience Musculoskeletal Discomfort (MSD) which is typically related to the low back, shoulders, and neck.

    OBJECTIVES: The objective of this study was to examine the occurrence of lower back, shoulder, and neck pain among Malaysian office workers.

    METHODS: 752 subjects (478 women and 274 men) were randomly selected from the Malaysian office workers population of 10,000 individuals. The participants were aged between 20-50 years and had at least one year of work experience. All participants completed the Cornell Musculoskeletal Discomfort Questionnaire (CMDQ). Instructions to complete the questinnaire were given to the participants under the researchers supervision in the morning before they started a day of work. The participants were then classified into four categories based on body mas index (BMI) (BMI:≤18.4, 18.5-24.99, 25-29.99, ≥30) and age (Age: 20-29, 30-39, 40-49, ≥50).

    RESULTS: There was a significant association between pain severity in gender and right (p = 0.046) and left (p = 0.041) sides of the shoulders. There was also a significant association between BMI and severity of pain in the lower back area (p = 0.047). It was revealed that total pain score in the shoulders was significantly associated with age (p = 0.041).

    CONCLUSIONS: The results of this study demonstrated that a significant correlation existed between pain servity for gender in both right and left shoulder. These findings require further scientific investigation as do the identification of effective preventative stratgies.

    Matched MeSH terms: Sex Factors*
  3. Ahmad NA, Silim UA, Rosman A, Mohamed M, Chan YY, Mohd Kasim N, et al.
    BMJ Open, 2018 05 14;8(5):e020649.
    PMID: 29764882 DOI: 10.1136/bmjopen-2017-020649
    INTRODUCTION: An estimated 13% of women in the postnatal period suffer from postnatal depression (PND) worldwide. In addition to underprivileged women, women who are exposed to violence are at higher risk of PND. This study aimed to investigate the relationship between intimate partner violence (IPV) and PND in Malaysia.

    METHODS: This survey was conducted as a nationwide cross-sectional study using a cluster sampling design. Probable PND was assessed using a self-administered Edinburgh Postnatal Depression Scale (EPDS). Demographic profiles and IPV were assessed using a locally validated WHO Multicountry Study on Women's Health and Life Events Questionnaire that was administered in a face-to-face interview. An EPDS total score of 12 or more and/or a positive tendency to self-harm were used to define PND.

    RESULTS: Out of 6669 women, 5727 respondents were successfully interviewed with a response rate of 85.9%. The prevalence of probable PND was 4.4% (95% CI 2.9 to 6.7). The overall prevalence of IPV was 4.9% (95% CI 3.8 to 6.4). Among the women in this group, 3.7% (95% CI 2.7 to 5.0), 2.6% (95% CI 1.9 to 3.5) and 1.2% (95% CI 0.9 to 1.7) experienced emotional, physical and sexual violence, respectively. Logistic regression analysis revealed that women who were exposed to IPV were at 2.3 times the risk for probable PND, with an adjusted OR (aOR) of 2.34 (95% CI 1.12 to 4.87). Other factors for PND were reported emotional violence (aOR 3.79, 95% CI 1.93 to 7.45), unplanned pregnancy (aOR 3.32, 95% CI 2.35 to 4.69), lack of family support during confinement (aOR 1.79, 95% CI 1.12 to 2.87), partner's use of alcohol (aOR 1.59, 95% CI 1.07 to 2.35) or being from a household with a low income (aOR 2.99; 95% CI 1.63 to 5.49).

    CONCLUSIONS: Exposure to IPV was significantly associated with probable PND. Healthcare personnel should be trained to detect and manage both problems. An appropriate referral system and support should be made available.
    Matched MeSH terms: Sex Offenses/statistics & numerical data*
  4. Yong EL, Ganesan G, Kramer MS, Logan S, Lau TC, Cauley JA, et al.
    Osteoporos Int, 2019 Apr;30(4):879-886.
    PMID: 30671610 DOI: 10.1007/s00198-019-04839-5
    Despite an increase in absolute numbers, the age-standardized incidence of hip fractures in Singapore declined in the period 2000 to 2017. Among the three major ethnic groups, Chinese women had the highest fracture rates but were the only group to show a temporal decline.

    INTRODUCTION: A study published in 2001 predicted a 30-50% increase in Singapore hip fracture incidence rates over the ensuing 30 years. To test that prediction, we examined the incidence of hip fracture in Singapore from 2000 to 2017.

    METHODS: We carried out a population-based study of hip fractures among Singapore residents aged ≥ 50 years. National medical insurance claims data were used to identify admissions with a primary discharge diagnosis of hip fracture. Age-adjusted rates, based on the age distribution of the Singapore population of 2000, were analyzed separately by sex and ethnicity (Chinese, Malay, or Indian).

    RESULTS: Over the 18-year study period, 36,082 first hip fractures were recorded. Total hip fracture admissions increased from 1487 to 2729 fractures/year in the years 2000 to 2017. Despite this absolute increase, age-adjusted fracture rates declined, with an average annual change of - 4.3 (95% CI - 5.0, - 3.5) and - 1.1 (95% CI - 1.7, - 0.5) fractures/100,000/year for women and men respectively. Chinese women had 1.4- and 1.9-fold higher age-adjusted rates than Malay and Indian women: 264 (95% CI 260, 267) versus 185 (95% CI 176, 193) and 141 (95% CI 132, 150) fractures/100,000/year, respectively. Despite their higher fracture rates, Chinese women were the only ethnic group exhibiting a decline, most evident in those ≥ 85 years, in age-adjusted fracture rate of - 5.3 (95% CI - 6.0, - 4.5) fractures/100,000/year.

    CONCLUSION: Although the absolute number of fractures increased, steep drops in elderly Chinese women drove a reduction in overall age-adjusted hip fracture rates. Increases in the older population will lead to a rise in total number of hip fractures, requiring budgetary planning and new preventive strategies.

    Matched MeSH terms: Sex Factors; Sex Distribution
  5. Zuo XY, Feng QS, Sun J, Wei PP, Chin YM, Guo YM, et al.
    Biol Sex Differ, 2019 03 25;10(1):13.
    PMID: 30909962 DOI: 10.1186/s13293-019-0227-9
    BACKGROUND: The male predominance in the incidence of nasopharyngeal carcinoma (NPC) suggests the contribution of the X chromosome to the susceptibility of NPC. However, no X-linked susceptibility loci have been examined by genome-wide association studies (GWASs) for NPC by far.

    METHODS: To understand the contribution of the X chromosome in NPC susceptibility, we conducted an X chromosome-wide association analysis on 1615 NPC patients and 1025 healthy controls of Guangdong Chinese, followed by two validation analyses in Taiwan Chinese (n = 562) and Malaysian Chinese (n = 716).

    RESULTS: Firstly, the proportion of variance of X-linked loci over phenotypic variance was estimated in the discovery samples, which revealed that the phenotypic variance explained by X chromosome polymorphisms was estimated to be 12.63% (non-dosage compensation model) in males, as compared with 0.0001% in females. This suggested that the contribution of X chromosome to the genetic variance of NPC should not be neglected. Secondly, association analysis revealed that rs5927056 in DMD gene achieved X chromosome-wide association significance in the discovery sample (OR = 0.81, 95% CI 0.73-0.89, P = 1.49 × 10-5). Combined analysis revealed rs5927056 for DMD gene with suggestive significance (P = 9.44 × 10-5). Moreover, the female-specific association of rs5933886 in ARHGAP6 gene (OR = 0.62, 95%CI: 0.47-0.81, P = 4.37 × 10-4) was successfully replicated in Taiwan Chinese (P = 1.64 × 10-2). rs5933886 also showed nominally significant gender × SNP interaction in both Guangdong (P = 6.25 × 10-4) and Taiwan datasets (P = 2.99 × 10-2).

    CONCLUSION: Our finding reveals new susceptibility loci at the X chromosome conferring risk of NPC and supports the value of including the X chromosome in large-scale association studies.

    Matched MeSH terms: Sex Characteristics*
  6. Ng RX, Guadamuz TE, Akbar M, Kamarulzaman A, Lim SH
    Int J STD AIDS, 2020 05;31(6):568-578.
    PMID: 32299293 DOI: 10.1177/0956462420913444
    Matched MeSH terms: Unsafe Sex/psychology*
  7. Gholami SK, Tay CS, Lee JM, Zagoren E, Maris SA, Wong JY, et al.
    J Endocrinol, 2021 11 24;252(1):1-13.
    PMID: 34643545 DOI: 10.1530/JOE-21-0126
    Inconsistencies have been reported on the effect of sex on aldosterone (ALDO) levels leading to clinical confusion. The reasons for these inconsistencies are uncertain but include estrogen and/or its receptor modulating target gene responses to mineralocorticoid receptor activation and ALDO secretagogues' levels. This study's goal was to determine whether ALDO's biosynthesis also differed by sex. Two approaches were used. First, plasma renin activity and aldosterone were measured in rats. Both were significantly higher in males. Secondly, using rat zona glomerulosa (ZG) cells, we assessed three ex vivo areas: (1) activity/levels of early steps in ALDO's biosynthesis (StAR and CYP11A1); (2) activity/levels of a late step (CYP11B2); and (3) the status of the mineralocorticoid receptor (MR)-mediated, ultrashort feedback loop. Females had higher expression of CYP11A1 and StAR and increased CYP11A1 activity (increased pregnenolone/corticosterone levels) but did not differ in CYP11B2 expression or activity (ALDO levels). Activating the ZG's MR (thereby activating the ultrashort feedback loop) reduced CYP11B2's activity similarly in both sexes. Exvivo, these molecular effects were accompanied, in females, by lower ALDO basally but higher ALDO with angiotensin II stimulation. In conclusion, we documented that not only was there a sex-mediated difference in the activity of ALDO's biosynthesis but also these differences at the molecular level help explain the variable reports on ALDO's circulating levels. Basally, both in vivo and ex vivo, males had higher ALDO levels, likely secondary to higher ALDO secretagogue levels. However, in response to acute stimulation, ALDO levels are higher in females because of the greater levels and/or activity of their StAR/CYP11A1.
    Matched MeSH terms: Sex Characteristics*
  8. Salman M, Khan AH, Adnan AS, Sulaiman SA, Hussain K, Shehzadi N, et al.
    Rev Assoc Med Bras (1992), 2016 Nov;62(8):742-747.
    PMID: 27992014 DOI: 10.1590/1806-9282.62.08.742
    Objective:: Anemia, a common complication of chronic kidney diseases (CKD), is involved in significant cardiovascular morbidity. Therefore, the objective of our study was to investigate the prevalence and severity of anemia in pre-dialysis patients, as well as to determine the predictors of anti-anemic therapy.

    Method:: A retrospective, observational study was conducted on adult pre-dialysis patients receiving treatment at the Hospital Universiti Sains Malaysia from January 2009 to December 2013.

    Results:: A total of 615 eligible cases were included. The mean age of patients was 64.1±12.0 years. The prevalence of anemia was 75.8%, and the severity of anemia was mild in 47.7% of the patients, moderate in 32.2%, and severe in 20%. Based on morphological classification of anemia, 76.9% of our patients had normochromic-normocytic anemia whereas 21.8 and 1.3% had hypochromic-microcytic anemia and macrocytic anemia, respectively. Oral iron supplements were prescribed to 38.0% of the patients and none of the patients was given erythropoietin stabilizing agents (ESA) or intravenous iron preparations. In logistic regression, significant predictors of anti-anemic preparation use were decreased hemoglobin and hematocrit, and advanced stages of CKD.

    Conclusion:: The results of the present study suggest that the prevalence of anemia in pre-dialysis patients is higher than currently accepted and it is found to be correlated with renal function; prevalence increases with declined renal function. An earlier identification as well as appropriate management of anemia will not only have a positive impact on quality of life but also reduce hospitalizations of CKD patients due to cardiovascular events.

    Matched MeSH terms: Sex Factors; Sex Distribution
  9. Chin KY, Soelaiman IN, Mohamed IN, Ahmad F, Ramli ES, Aminuddin A, et al.
    Clinics (Sao Paulo), 2013;68(2):159-66.
    PMID: 23525310
    OBJECTIVES: Variations in the prevalence of sex-hormone-related diseases have been observed between Asian ethnic groups living in the same country; however, available data concerning their sex hormone levels are limited. The present study aimed to determine the influence of ethnicity and age on the sex hormone levels of Malay and Chinese men in Malaysia.

    METHODS: A total of 547 males of Malay and Chinese ethnicity residing in the Klang Valley Malaysia underwent a detailed screening, and their blood was collected for sex hormones analyses.

    RESULTS: Testosterone levels were normally distributed in the men (total, free and non-sex hormone-binding globulin (SHBG) bound fractions), and significant ethnic differences were observed (p<0.05); however, the effect size was small. In general, testosterone levels in males began to decline significantly after age 50. Significant ethnic differences in total, free and non-SHBG bound fraction estradiol levels were observed in the 20-29 and 50-59 age groups (p<0.05). The estradiol levels of Malay men decreased as they aged, but they increased for Chinese men starting at age 40.

    CONCLUSIONS: Small but significant differences in testosterone levels existed between Malay and Chinese males. Significant age and race differences existed in estradiol levels. These differences might contribute to the ethnic group differences in diseases related to sex hormones, which other studies have found in Malaysia.

    Matched MeSH terms: Sex Hormone-Binding Globulin/analysis*
  10. Meyer JP, Zelenev A, Wickersham JA, Williams CT, Teixeira PA, Altice FL
    Am J Public Health, 2014 Mar;104(3):434-41.
    PMID: 24432878 DOI: 10.2105/AJPH.2013.301553
    We assessed gender differences in longitudinal HIV treatment outcomes among HIV-infected jail detainees transitioning to the community.
    Matched MeSH terms: Sex Factors*
  11. Assi N, Rinaldi S, Viallon V, Dashti SG, Dossus L, Fournier A, et al.
    Int J Cancer, 2020 Feb 01;146(3):759-768.
    PMID: 30968961 DOI: 10.1002/ijc.32324
    Alcohol consumption is associated with higher risk of breast cancer (BC); however, the biological mechanisms underlying this association are not fully elucidated, particularly the extent to which this relationship is mediated by sex hormone levels. Circulating concentrations of estradiol, testosterone, their free fractions and sex-hormone binding globulin (SHBG), were examined in 430 incident BC cases and 645 matched controls among alcohol-consuming postmenopausal women nested within the European Prospective Investigation into Cancer and Nutrition. Mediation analysis was applied to assess whether individual hormone levels mediated the relationship between alcohol intake and BC risk. An alcohol-related hormonal signature, obtained by partial least square (PLS) regression, was evaluated as a potential mediator. Total (TE), natural direct and natural indirect effects (NIE) were estimated. Alcohol intake was positively associated with overall BC risk and specifically with estrogen receptor-positive tumors with respectively TE = 1.17(95%CI: 1.01,1.35) and 1.36(1.08,1.70) for a 1-standard deviation (1-SD) increase of intake. There was no evidence of mediation by sex steroids or SHBG separately except for a weak indirect effect through free estradiol where NIE = 1.03(1.00,1.06). However, an alcohol-related hormonal signature negatively associated with SHBG and positively with estradiol and testosterone was associated with BC risk (odds ratio [OR] = 1.25 [1.07,1.47]) for a 1-SD higher PLS score, and had a statistically significant NIE accounting for a mediated proportion of 24%. There was limited evidence of mediation of the alcohol-BC association by individual sex hormones. However, a hormonal signature, reflecting lower levels of SHBG and higher levels of sex steroids, mediated a substantial proportion of the association.
    Matched MeSH terms: Sex Hormone-Binding Globulin/analysis
  12. Hong S
    PMID: 12264851
    Matched MeSH terms: Sex Factors; Sex Distribution*
  13. Bachireddy C, Bazazi AR, Kavasery R, Govindasamy S, Kamarulzaman A, Altice FL
    Drug Alcohol Depend, 2011 Jul 01;116(1-3):151-7.
    PMID: 21232882 DOI: 10.1016/j.drugalcdep.2010.12.001
    BACKGROUND: Pre-incarceration HIV transmission behaviors and current attitudes toward opioid substitution therapy (OST) among HIV-infected male prisoners in Malaysia have important implications for secondary HIV prevention efforts.

    METHODS: In June 2007, 102 HIV-infected male prisoners within 6 months of community-release were anonymously surveyed in Kota Bharu, Malaysia.

    RESULTS: Nearly all subjects (95%) met criteria for opioid dependence. Overall, 66% of participants reported sharing needles, and 37% reported unprotected sex in the 30 days prior to incarceration. During this period, 77% reported injection drug use, with 71% injecting daily and 65% injecting more than one substance. Injection of buprenorphine (28%), benzodiazepines (28%) and methamphetamines (49%) was reported. Nearly all (97%) of those reporting unprotected sex did so with someone not known to be HIV-infected. While 51% believed that opioid substitution therapy (OST) would be helpful, only 33% believed they needed it to prevent relapse after prison release. Most participants (70%) expressed interest in learning more about OST. Those reporting the highest injection risks were more likely to believe OST would be helpful (p<0.05), to believe that it was needed to prevent relapse post-release (p<0.05), and to express interest in learning more about OST (p<0.01).

    CONCLUSIONS: Secondary HIV prevention among prisoners in Malaysia is crucial to reduce community HIV transmission after release. Effectively reducing HIV risk associated with opioid injection will require OST expansion, including social marketing to improve its acceptability and careful monitoring. Access to sterile injection equipment, particularly for non-opioid injectors, and behavioral interventions that reduce sexual risk will also be required.

    Matched MeSH terms: Unsafe Sex/prevention & control; Unsafe Sex/psychology
  14. Yaacob NS, Goh KS, Norazmi MN
    Exp. Toxicol. Pathol., 2012 Jan;64(1-2):127-31.
    PMID: 20674317 DOI: 10.1016/j.etp.2010.07.005
    The peroxisome proliferator-activated receptors (PPARs) have been implicated in regulating the immune response. We determined the relative changes in the transcriptional expression of PPAR isoforms (α, γ1 and γ2) and cytokines involved in the pathogenesis of type 1 diabetes (T1D) in the immune cells of 5 weeks, 10 weeks and diabetic male non-obese diabetic (NOD) mice compared to those of female NOD mice from our previous studies, "normalized" against their respective non-obese diabetic resistant (NOR) mice controls. Overall PPARα was significantly more elevated in the macrophages of female NOD mice of all age groups whereas PPARγ, particularly the PPARγ2 isoform was more depressed in the macrophages and CD4(+) lymphocytes of female NOD mice compared to their male counterparts. The pro-inflammatory cytokines, IL-1 and TNFα, as well as the Th1 cytokines, IL-2 and IFNγ were more elevated in female NOD mice whereas the Th2 cytokine, IL-4, was more depressed in these mice compared to their male counterparts. These findings suggest that the preponderance of T1D in female NOD mice may be influenced by the more pronounced changes in the expression of PPAR isoforms and pathogenic cytokines compared to those in male NOD mice.
    Matched MeSH terms: Sex Characteristics*
  15. Julia PE, Othman AS
    Spinal Cord, 2011 Jul;49(7):791-4.
    PMID: 21321578 DOI: 10.1038/sc.2011.4
    This study is a cross-sectional, face-to-face interview.
    Matched MeSH terms: Sex Counseling/methods
  16. Mountjoy M, Akef N, Budgett R, Greinig S, Li G, Manikavasagam J, et al.
    Br J Sports Med, 2015 Jul;49(13):887-92.
    PMID: 25833900 DOI: 10.1136/bjsports-2014-094424
    Antidoping and medical care delivery programmes are required at all large international multisport events.
    Matched MeSH terms: Sex Offenses/prevention & control
  17. PMID: 12288741
    PIP: The great deal of documentation which was prepared for the recent TSS/CST Population IEC (information, education, and communication) meeting from research, field experiments, and action projects will be useful to TSS/CST advisors and individual countries undertaking IEC and population education work. This article summarizes the 12 sessions held during the open forum. To illustrate some of the latest trends in population and health communication, the "enter-educate" approach and use of the interactive computer software called SCOPE (Strategic Communication Planning and Evaluation) were discussed. Next, ways in which to apply research effectively in IEC and population education were considered. Examples were provided of 1) a workshop methodology used to help a multidisciplinary group design a problem-solving communication strategy in Malaysia and Dominica; 2) the counseling training evaluation technique based on the GATHER (greet, ask, tell, help, explain, and return for follow-up) model; and 3) four types of evaluation of population education in schools. The third session was concerned with the program approach used in IEC and population education. Session 4 dealt with the implication of UNFPA support to family planning (FP) IEC. Counseling skills training and interpersonal communication were next on the agenda, followed by a consideration of how knowledge and policies are applied in the area of youth. The seventh session concentrated on ways to involve men in FP and reproductive health and included a discussion of a case study on the attitude and behavior of men with regard to FP which had IEC implications. The next session described the need to reconceptualize population education and what such a reconceptualization would entail. Session 9 was devoted to a consideration of gender issues and the education of girls. The tenth session covered the use of participatory approaches and community involvement in population communication programs. Innovative methodologies for school-based population education were described next, and the last session was concerned with new information technologies such as navigating the Internet and using new software for establishing databases.
    Matched MeSH terms: Sex Education*
  18. Leppel K
    Malay Econ Rev, 1982 Oct;27(2):61-70.
    PMID: 12266446
    PIP: A model of the determinants of child quality and of the value of a woman's time is developed and tested using data from the Malaysian Family Life Survey of 1976-1977. Child quality is measured by educational attainment; factors influencing the value of the mother's time include size and age composition of household, family income, education, and hours worked. The results indicate that size and age composition of household affect a woman's asking wage. However, more data are needed before the effects of family structure on schooling can be measured with confidence.
    Matched MeSH terms: Sex Factors*
  19. Faiz ZM, Mardhiyyah MP, Mohamad A, Hidir A, Nurul-Hidayah A, Wong L, et al.
    Anim. Reprod. Sci., 2019 Oct;209:106143.
    PMID: 31514941 DOI: 10.1016/j.anireprosci.2019.106143
    Understanding Macrobrachium rosenbergii ovarian maturation control at the genome level is an important aspect for increasing larvae production. In this study, an ovarian maturation related gene, M. rosenbergii vWD domain and three Kazal-type domains of a gene (MrvWD-Kazal) have been studied. The MrvWD-Kazal gene was isolated using a rapid amplification of cDNA end (RACE) method and the relative abundances of MrvWD-Kazal mRNA in the ovary, hepatopancreas, stomach, intestine and gill were determined by using the quantitative PCR technique. The MrvWD-Kazal gene is composed of 2194 bp with an open reading frame (ORF) of 1998 bp encoding 665 amino acids and has great similarity to the M. nipponense vWD-Kazal gene (91%). The qPCR analyses indicated the relative abundance of MrvWD-Kazal mRNA transcript varied among different stages of ovarian function (P < 0.05), but there were no differences abundance in hepatopancreas, stomach, intestine and gill (P> 0.05). In the ovary, relative abundance of MrvWD-Kazal mRNA transcript gradually increased with ovarian maturation from Stages 1 (Spent; 1.00-fold), to 2 (Proliferative; 3.47-fold) to 3 (Premature; 6.18-fold) and decreased at Stage 4 (Mature; 1.31-fold). Differential relative abundances of MrvWD-Kazal mRNA transcript in the ovary indicate the MrvWD-Kazal protein may have an important function in ovarian maturation of M. rosenbergii. The results of this study also indicate the MrvWD-Kazal is not involved in regulation of the reproductive related function of the hepatopancreas, digestive system (stomach and intestine) and respiratory system (gill).
    Matched MeSH terms: Sex Differentiation/genetics*
  20. Yong RY, Gan LS, Chang YM, Yap EP
    Hum Genet, 2007 Nov;122(3-4):237-49.
    PMID: 17588179
    Amelogenin paralogs on Chromosome X (AMELX) and Y (AMELY) are commonly used sexing markers. Interstitial deletion of Yp involving the AMELY locus has previously been reported. The combined frequency of the AMELY null allele in Singapore and Malaysia populations is 2.7%, 0.6% in Indian and Malay ethnic groups respectively. It is absent among 541 Chinese screened. The null allele in this study belongs to 3 Y haplogroups; J2e1 (85.7%), F* (9.5%) and D* (4.8%). Low and high-resolution STS mapping, followed by sequence analysis of breakpoint junction confirmed a large deletion of 3 to 3.7-Mb located at the Yp11.2 region. Both breakpoints were located in TSPY repeat arrays, suggesting a non-allelic homologous recombination (NAHR) mechanism of deletion. All regional null samples shared identical breakpoint sequences according to their haplogroup affiliation, providing molecular evidence of a common ancestry origin for each haplogroup, and at least 3 independent deletion events recurred in history. The estimated ages based on Y-SNP and STR analysis were approximately 13.5 +/- 3.1 kyears and approximately 0.9 +/- 0.9 kyears for the J2e1 and F* mutations, respectively. A novel polymorphism G > A at Y-GATA-H4 locus in complete linkage disequilibrium with J2e1 null mutations is a more recent event. This work re-emphasizes the need to include other sexing markers for gender determination in certain regional populations. The frequency difference among global populations suggests it constitutes another structural variation locus of human chromosome Y. The breakpoint sequences provide further information to a better understanding of the NAHR mechanism and DNA rearrangements due to higher order genomic architecture.
    Matched MeSH terms: Sex Determination Analysis/methods
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