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Gender beyond male and female: Occurrence of a gynandromorph in the Japanese encephalitis vector Culex sitiens (Diptera: Culicidae)

Low VL, Wong ML, Liew JWK, Pramasivan S, Jeyaprakasam NK, Vythilingam I

Acta Trop, 2020 Jan;201:105207.
PMID: 31586449 DOI: 10.1016/j.actatropica.2019.105207

A gynandromorph of Culex sitiens Wiedemann (Diptera: Culicidae) was attracted to a human during a mosquito surveillance programme conducted in Kuala Lipis, Pahang, Malaysia on July 20, 2019. Gynandromorphism was observed in antennae, maxillary palps, legs and wings of the specimen, with distinct male characters on the left and female characters on the right, though the left maxillary palp is slightly shorter than the proboscis of a typical male. The abdomen, however, displays well-developed male genitalia. This study represents the first report of oblique gynandromorphism in Cx. sitiens, one of the vectors of Japanese encephalitis in Asia.

Matched MeSH terms: Phenotype
Fulltext Clinical phenotypes and heath-related quality of life of COPD patients in a rural setting in Malaysia - a cross-sectional study

Chai CS, Mos SB, Ng DL, Goh GM, Su AT, Ibrahim MAB, et al.

BMC Pulm Med, 2020 Sep 29;20(1):254.
PMID: 32993591 DOI: 10.1186/s12890-020-01295-4

BACKGROUND: The Spanish chronic obstructive pulmonary disease (COPD) guideline phenotypes patients according to the exacerbation frequency and COPD subtypes. In this study, we compared the patients' health-related quality of life (HRQoL) according to their COPD phenotypes.
METHODS: This was a cross-sectional study of COPD patients who attended the outpatient clinic of the Serian Divisional Hospital and Bau District Hospital from 23th January 2018 to 22th January 2019. The HRQoL was assessed using modified Medical Research Council (mMRC), COPD Assessment Test (CAT), and St George's Respiratory Questionnaire for COPD (SGRQ-c).
RESULTS: Of 185 patients, 108 (58.4%) were non-exacerbators (NON-AE), 51 (27.6%) were frequent exacerbators (AE), and the remaining 26 (14.1%) had asthma-COPD overlap (ACO). Of AE patients, 42 (82.4%) had chronic bronchitis and only 9 (17.6%) had emphysema. Of the 185 COPD patients, 65.9% had exposure to biomass fuel and 69.1% were ex- or current smokers. The scores of mMRC, CAT, and SGRQ-c were significantly different between COPD phenotypes (p

Matched MeSH terms: Phenotype
Human alcohol dehydrogenase ADH2 and ADH3 polymorphisms in ethnic Chinese and Indians of West Malaysia

Teng YS, Jehan S, Lie-Injo LE

Hum Genet, 1979;53(1):87-90.
PMID: 395099

Human alcohol dehydrogenase ADH2 and ADH3 were investigated in liver and stomach specimens of Chinese and Indians from West Malaysia. Eight-nine percent of the Chinese carry the atypical ADH2 type, a proportion very similar to that reported in Japanese. However, among 43 Indian specimens there was not a single case of atypical ADH2. In Indians, the gene frequency of ADH13 is 0.64 and of ADH23 0.36, similar to the frequencies in Caucasians, whereas in Chinese, the gene frequency for ADH13 and ADH23 is 0.91 and 0.09, respectively. We also report some unusual enzymatic characteristics in the course of our study.

Matched MeSH terms: Phenotype
Genetic markers in Malaysians: variants of soluble and mitochondrial glutamic oxaloacetic transaminase and salivary and pancreatic amylase, phosphoglucomutase III and saliva esterase polymorphisms

Teng YS, Tan SG, Lopez CG, Ng T, Lie-Injo LE

Hum Genet, 1978 Apr 24;41(3):347-54.
PMID: 649160

Malaysians of Malay, Chinese, and Indian ancestries were electrophoretically phenotyped for Amy1 and saliva esterase region 1 (Set-1) from saliva, Amy2 from plasma, soluble and mitochondrial GOT and PGM3 from leukocyte and placenta. Kadazans and Bajaus, the indigenous people of Sabah, East Malaysia were surveyed for Amy2. Three types of variants were observed for Amy1, one type for Amy2. Only Indians were found to be polymorphic for Amy1. Two GOTs 2-1 and three GOTm 2-1 variants were found among 281 Chinese while three GOTm 2-1 variants were found among 311 Malays. Malaysian Malays, Chinese, and Indians were found to be polymorphic for Set-1 and PGM3. The gene frequencies in Malays are Set-1F=0.601 +/- 0.021, Set-1S = 0.399 +/- 0.021; PGM13 = 0.788 +/- 0.020, PGM23 = 0.212 +/- 0.020; in Chinese Set-1F = 0.497 +/- 0.028, Set-1S = 0.503 +/- 0.028; PGM13 = 0.745 +/- 0.24, PGM23 = 0.255 +/- 0.024; in Indians, Set-1F = 0.449 +/- 0.031, Set-1S = 0.551 +/- 0.031; PGM13 = 0.755 +/- 0.029, PGM23 = 0.245 +/- 0.029.

Matched MeSH terms: Phenotype
Transferrin C subtyping in Malaysians and in Indonesians from North Sumatra

Tan SG, Gan YY, Asuan K

Hum Genet, 1982;60(4):369-70.
PMID: 7106773

Malays, Chinese, and Indians from Peninsular Malaysia; Ibans and Bidayuh from Sarawak State; Kadazans from Sabah State, Northern Borneo; and Bataks, Minangkabau, and Javanese from North Sumatra, Indonesia, were subtyped for transferrin C by polyacrylamide gel isoelectric focusing. All nine populations studied are polymorphic for two alleles, TfCl and TfC2, TfC3 was polymorphic in six populations and present as a rare variant in the other three. The frequency of TfC1 ranged from 0.855 in Bidayuh to 0.711 in Javanese, that of TfC2 from 0.231 in Indians to 0.113 in Bidayuh, and that of TfC3 from 0.030 in Javanese and Chinese to 0.008 in Bidayuh. TfDchi is polymorphic in all the populations that we studied except in Minangkabau, in whom it is present as a rare variant, and in Indians, in whom it is absent.

Matched MeSH terms: Phenotype
Salivary peroxidase, Pm, and Ph protein polymorphisms in Malasians.

Noraini I, Tan SG, Gan YY, Teng YS

Hum Genet, 1980;56(2):205-7.
PMID: 7450777

Three human saliva genetic markers, namely, salivary peroxidase (SAPX), Pm, and Ph proteins, were investigated in the three major ethnic groups of Malaysia: Malays, Chinese, and Indians. For Pm, the allelic frequencies of Pm+ for Malays, Chinese, and Indians are 0.385 +/- 0.030, 0.282 +/- 0.026, and 0.289 +/- 0.026 respectively. For Ph, the allelic frequencies of Ph+ are 0.082 +/- 0.016 for Malays, 0.109 +/- 0.017 for Chinese, and 0.062 +/- 0.013 for Indians. For SAPX, the allelic frequencies of SAPX1 in Malays, Chinese, and Indians are 0.762 +/- 0.027, 0.755 +/- 0.027, and 0.723 +/- 0.026 respectively.

Matched MeSH terms: Phenotype
Genomewide selection in oil palm: increasing selection gain per unit time and cost with small populations

Wong CK, Bernardo R

Theor Appl Genet, 2008 Apr;116(6):815-24.
PMID: 18219476 DOI: 10.1007/s00122-008-0715-5

Oil palm (Elaeis guineensis Jacq.) requires 19 years per cycle of phenotypic selection. The use of molecular markers may reduce the generation interval and the cost of oil-palm breeding. Our objectives were to compare, by simulation, the response to phenotypic selection, marker-assisted recurrent selection (MARS), and genomewide selection with small population sizes in oil palm, and assess the efficiency of each method in terms of years and cost per unit gain. Markers significantly associated with the trait were used to calculate the marker scores in MARS, whereas all markers were used (without significance tests) to calculate the marker scores in genomewide selection. Responses to phenotypic selection and genomewide selection were consistently greater than the response to MARS. With population sizes of N = 50 or 70, responses to genomewide selection were 4-25% larger than the corresponding responses to phenotypic selection, depending on the heritability and number of quantitative trait loci. Cost per unit gain was 26-57% lower with genomewide selection than with phenotypic selection when markers cost US $1.50 per data point, and 35-65% lower when markers cost $0.15 per data point. With population sizes of N = 50 or 70, time per unit gain was 11-23 years with genomewide selection and 14-25 years with phenotypic selection. We conclude that for a realistic yet relatively small population size of N = 50 in oil palm, genomewide selection is superior to MARS and phenotypic selection in terms of gain per unit cost and time. Our results should be generally applicable to other tree species that are characterized by long generation intervals, high costs of maintaining breeding plantations, and small population sizes in selection programs.

Matched MeSH terms: Phenotype
Contrast sensitivity is associated with frailty

Amir NN, Kamaruzzaman SB, Effendi-Tenang I, Jamaluddin M, Tan MP, Ramli N, et al.

Eur Geriatr Med, 2021 Apr;12(2):313-319.
PMID: 33486745 DOI: 10.1007/s41999-021-00450-2

PURPOSE: Using data from the Malaysian Elders Longitudinal Research (MELoR), this study investigated the association between visual function (visual acuity and contrast sensitivity) and frailty in a group of urban-dwelling older adults.
METHODS: This was a cross-sectional study. 1332 participants aged ≥ 55 years were selected by random sampling from the parliamentary electoral register. Only 1274 participants completed the frailty assessment and 1278 participants completed the contrast sensitivity assessment. Impaired vision was defined as a Snellen visual acuity of worse than 6/12 in the better eye. Poor contrast sensitivity was defined as a score on the Pelli Robson chart of lower than 1.65. Frailty was defined with the Fried's phenotype criteria. Inter-group comparisons were determined with the independent T-test for continuous variables and the Pearson's Chi-squared test for categorical variables. The odds ratio (OR) with 95% confidence interval (CI) was used to evaluate the cross-sectional association between frailty and visual function.
RESULTS: The mean age of participants was 68.8 ± 7.5 years, of which 58.1% (774) were women. Impaired vision and poor contrast sensitivity were present in 187 (14%) and 271 (21.2%) subjects respectively. 73 (5.8%) individuals were classified as frail, 1161 (91.0.%) pre-frail, and 40 (2.8%) non-frail. There was no significant difference in frailty phenotypes between those with good and impaired vision (p = 0.241). Fried's component of handgrip strength, gait speed and exhaustion were significantly better in those with good visual function (p

Matched MeSH terms: Phenotype
Fulltext Sex determination in the GIFT strain of tilapia is controlled by a locus in linkage group 23

Taslima K, Wehner S, Taggart JB, de Verdal H, Benzie JAH, Bekaert M, et al.

BMC Genet, 2020 04 29;21(1):49.
PMID: 32349678 DOI: 10.1186/s12863-020-00853-3

BACKGROUND: Tilapias (Family Cichlidae) are the second most important group of aquaculture species in the world. They have been the subject of much research on sex determination due to problems caused by early maturation in culture and their complex sex-determining systems. Different sex-determining loci (linkage group 1, 20 and 23) have been detected in various tilapia stocks. The 'genetically improved farmed tilapia' (GIFT) stock, founded from multiple Nile tilapia (Oreochromis niloticus) populations, with some likely to have been introgressed with O. mossambicus, is a key resource for tilapia aquaculture. The sex-determining mechanism in the GIFT stock was unknown, but potentially complicated due to its multiple origins.
RESULTS: A bulk segregant analysis (BSA) version of double-digest restriction-site associated DNA sequencing (BSA-ddRADseq) was developed and used to detect and position sex-linked single nucleotide polymorphism (SNP) markers in 19 families from the GIFT strain breeding nucleus and two Stirling families as controls (a single XY locus had been previously mapped to LG1 in the latter). About 1500 SNPs per family were detected across the genome. Phenotypic sex in Stirling families showed strong association with LG1, whereas only SNPs located in LG23 showed clear association with sex in the majority of the GIFT families. No other genomic regions linked to sex determination were apparent. This region was validated using a series of LG23-specific DNA markers (five SNPs with highest association to sex from this study, the LG23 sex-associated microsatellite UNH898 and ARO172, and the recently isolated amhy marker for individual fish (n = 284).
CONCLUSIONS: Perhaps surprisingly given its multiple origins, sex determination in the GIFT strain breeding nucleus was associated only with a locus in LG23. BSA-ddRADseq allowed cost-effective analysis of multiple families, strengthening this conclusion. This technique has potential to be applied to other complex traits. The sex-linked SNP markers identified will be useful for potential marker-assisted selection (MAS) to control sex-ratio in GIFT tilapia to suppress unwanted reproduction during growout.

Matched MeSH terms: Phenotype
Siriraj I Gγ(Aγδβ)0-thalassaemia causing severe thalassaemia intermedia in compound heterozygous state with IVS1-1(G→T) mutation

Wong YY, Alauddin H, Raja Sabudin RZA, Ithnin A, Jalil N, Abdul Latiff Z, et al.

Malays J Pathol, 2021 Apr;43(1):95-100.
PMID: 33903312

The Siriraj I Gγ(Aγδβ)0-thalassaemia is a novel mutation involving a 118kb deletion of the β-globin gene cluster. It was first reported in 2012 in two unrelated families from the southern part of Thailand. The carriers in the heterozygous state are clinically asymptomatic. Nonetheless, its complex interaction with other β-thalassaemia could give rise to different clinical phenotypes, ranging from mild thalassaemia intermedia to thalassaemia major. We report here a case of a six-year-old Malay boy, presented with pallor, growth failure and hepatosplenomegaly. His haemoglobin at presentation was 9.2g/dL with a mean cell haemoglobin of 22.6pg and a mean cell volume of 69.9fl. His peripheral blood smear showed features of thalassaemia intermedia. Haemoglobin (Hb) analysis revealed markedly raised Hb F (83%), normal HbA2 levels and absent HbA. Deoxyribonucleic acid (DNA) analysis showed compound heterozygous IVS1-1 (G→T) β-globin gene mutation and Siriraj I Gγ(Aγδβ)0-deletion (genotype βIVS1-1/ β Siriraj I deletion). Both his father and elder sister are carriers of Siriraj I Gγ(Aγδβ)0-thalassaemia while his mother carries IVS1-1 (G→T) gene mutation. Clinically, the patient is transfusion dependent on six weekly regime. To the best of our knowledge, this is the first reported case in Malaysia involving unique Siriraj I Gγ(Aγδβ)0-thalassaemia and IVS1-1 (G→T) in a compound heterozygous state. In summary, detection of Siriraj I Gγ(Aγδβ)0-thalassaemia is essential as this deletion can lead to severe disease upon interaction with a β-thalassemia point mutation as demonstrated in our case. The establishment of effective carrier screening and genetic counselling is important to prevent its adverse consequences.

Matched MeSH terms: Phenotype
Fulltext A case study of distinctive phenotypes arising from emanuel syndrome in two karyotypically identical patients

Mot Yee Yik, Rabiatul Basria S.M.N. Mydin, Emmanuel Jairaj Moses, Shahrul Hafiz Mohd Zaini, Abdul Rahman Azhari, Narazah Mohd Yusoff

Malaysian Journal of Medicine and Health Sciences, 2020;16(102):78-80.
MyJurnal

Emanuel syndrome, also referred to as supernumerary der(22) or t(11;22) syndrome, is a rare genomic syndrome. Patients are normally presented with multiple congenital anomalies and severe developmental disabilities. Affected newborns usually carry a derivative chromosome 22 inherited from either parent, which stems from a balanced translocation between chromosomes 11 and 22. Unfortunately, identification of Emanuel syndrome carriers is diffi- cult as balanced translocations do not typically present symptoms. We identified two patients diagnosed as Emanuel syndrome with identical chromosomal aberration: 47,XX,+der(22)t(11;22)(q24;q12.1)mat karyotype but presenting variable phenotypic features. Emanuel syndrome patients present variable phenotypes and karyotypes have also been inconsistent albeit the existence of a derivative chromosome 22. Our data suggests that there may exist ac- companying genetic aberrations which influence the outcome of Emanuel syndrome phenotypes but it should be cautioned that more patient observations, diagnostic data and research is required before conclusions can be drawn on definitive karyotypic-phenotypic correlations.

Matched MeSH terms: Phenotype
Fulltext Phenotype microarrays reveal metabolic dysregulations of neurospheres derived from embryonic Ts1Cje mouse model of Down syndrome

Seth EA, Lee HC, Yusof HHBM, Nordin N, Cheah YK, Ho ETW, et al.

PLoS One, 2020;15(7):e0236826.
PMID: 32730314 DOI: 10.1371/journal.pone.0236826

Down syndrome (DS), is the most common cause of intellectual disability, and is characterized by defective neurogenesis during perinatal development. To identify metabolic aberrations in early neurogenesis, we profiled neurospheres derived from the embryonic brain of Ts1Cje, a mouse model of Down syndrome. High-throughput phenotypic microarray revealed a significant decrease in utilisation of 17 out of 367 substrates and significantly higher utilisation of 6 substrates in the Ts1Cje neurospheres compared to controls. Specifically, Ts1Cje neurospheres were less efficient in the utilisation of glucose-6-phosphate suggesting a dysregulation in the energy-producing pathway. T Cje neurospheres were significantly smaller in diameter than the controls. Subsequent preliminary study on supplementation with 6-phosphogluconic acid, an intermediate of glucose-6-phosphate metabolism, was able to rescue the Ts1Cje neurosphere size. This study confirmed the perturbed pentose phosphate pathway, contributing to defects observed in Ts1Cje neurospheres. We show for the first time that this comprehensive energetic assay platform facilitates the metabolic characterisation of Ts1Cje cells and confirmed their distinguishable metabolic profiles compared to the controls.

Matched MeSH terms: Phenotype
Epithelial-to-mesenchymal transition in ameloblastoma: focus on morphologically evident mesenchymal phenotypic transition

Siar CH, Ng KH

Pathology, 2019 Aug;51(5):494-501.
PMID: 31262562 DOI: 10.1016/j.pathol.2019.04.004

The ameloblastoma is the most common and clinically significant odontogenic epithelial neoplasm known for its locally-invasive behaviour and high recurrence risk. Epithelial-to-mesenchymal transition (EMT) is a fundamental process whereby epithelial cells lose their epithelial characteristics and gain mesenchymal properties. EMT induction via transcription repression has been investigated in ameloblastoma. However, morphologically evident mesenchymal phenotypic transition remains ill-defined. To determine this, 24 unicystic (UA), 34 solid/multicystic (SA) and 18 recurrent ameloblastoma (RA) were immunohistochemically examined for three EMT-related mesenchymal markers, alpha smooth muscle actin (α-SMA), osteonectin and neuronal cadherin (N-cadherin). All three factors were heterogeneously detected in ameloblastoma samples (α-SMA, n=71/76, 93.4%; osteonectin, n=72/76, 94.7%; N-cadherin, n=24/76, 31.6%). In the tumoural parenchyma, immunoreactive cells were not morphologically distinct from their non-reactive cellular counterparts. Rather, α-SMA and osteonectin predominantly labelled the cytoplasm of central polyhedral > peripheral columnar/cuboidal tumour cells. N-cadherin demonstrated weak-to-moderate circumferential membranous staining in both neoplastic cell types and cytoplasmic expression in spindle-celled epithelium of desmoplastic amelobastoma. For all tumour subsets, α-SMA and osteonectin scored significantly higher in the stroma > parenchyma whilst α-SMA was overexpressed along the tumour invasive front > centre (p<0.05). Stromal N-cadherin scored higher in SA > UA and RA > UA (p<0.05). Other clinicopathological parameters showed no significant associations. Taken together, acquisition of mesenchymal traits without morphologically evident mesenchymal alteration suggests partial EMT in ameloblastoma. Stromal upregulation of these proteins in SA and RA implicates a role in local invasiveness.

Matched MeSH terms: Phenotype
Identification of hybrids of painted and milky storks using FTA card-collected blood, molecular markers, and morphologies

Yee EY, Zainuddin ZZ, Ismail A, Yap CK, Tan SG

Biochem Genet, 2013 Oct;51(9-10):789-99.
PMID: 23846110 DOI: 10.1007/s10528-013-9607-8

Suspicious hybrids of painted storks and milky storks were found in a Malaysian zoo. Blood of these birds was sampled on FTA cards for DNA fingerprinting. Of 44 optimized primers, 6 produced diagnostic markers that could identify hybrids. The markers were based on simple, direct PCR-generated multilocus banding patterns that provided two sets of genetic data, one for each of the two stork species and another for the hybrids. It also revealed that large DNA fragments (3,000 bp) could be amplified from blood collected on FTA cards. When the results of each individual bird's DNA fingerprint were compared with plumage characters, the hybrids were found to express a range of intermediate phenotypic traits of the pure breeds with no dominant plumage characteristic from either parental species.

Matched MeSH terms: Phenotype
Polymorphism of two closely linked hexokinase loci in the grasshopper Oxya japonica japonica (Orthoptera: Acrididae: Oxyinae)

Chan KL, Yushayati Y

Biochem Genet, 1993 Feb;31(1-2):1-6.
PMID: 8471020
Matched MeSH terms: Phenotype
Treatment Outcome of Bangladeshi UCLP Patients Based on Both Phenotype and Postnatal Treatment Factors using Modified Huddart Bodenham (mHB) Index

Haque S, Alam MK, Khamis MF

Cleft Palate Craniofac J, 2018 08;55(7):966-973.
PMID: 27479096 DOI: 10.1597/15-293

OBJECTIVE: To evaluate the dental arch relationship (DAR) of nonsyndromic unilateral cleft lip and palate (UCLP) and to explore the various phenotype and postnatal treatment factors that are responsible for poor DAR.
DESIGN: Retrospective study.
SETTING: School of Dental Science, Universiti Sains Malaysia.
SUBJECTS: Eighty-four Bangladeshi children with nonsyndromic UCLP who received cheiloplasty and palatoplasty.
MAIN OUTCOME MEASURES: Dental models were taken at 5 to 12 years of age (man: 7.69), and dental arch relationships were assessed using modified Huddart/Bodenham index (mHB) by two raters. Kappa statistics was used to evaluate the intra- and interexaminer agreements, chi-square was used to assess the associations, and logistic regression analysis was used to explore the responsible factors that affect DAR.
RESULTS: The total mHB score (mean [SD]) was -8.261 (7.115). Intra- and interagreement was very good. Using crude and stepwise backward regression analysis, significant association was found between positive history of class III (P = .025, P = .030, respectively) and unfavorable DAR. Complete UCLP (P = .003) was also significantly correlated with unfavorable DAR.
CONCLUSION: This multivariate study suggested complete type of UCLP and positive history of class III had a significantly unfavorable effect on the DAR.

Matched MeSH terms: Phenotype
Fulltext Genotypic and phenotypic variation of CADASIL among Chinese, Indians and Rungus in Malaysia

Toh, Tsun-Haw, Lim, Kheng-Seang, Ng, Ching-Ching, Imran Idris, Sherrini Bazir Ahmad, Lim, Thien-Thien, et al.

Neuroscience Research Notes, 2019;2(3):1-11.
MyJurnal

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease of small cerebral arteries. This case series aims to describe the mutations in NOTCH3and their phenotypes in Malaysia. We includedpatients who were genetically confirmed to have CADASIL, diagnosed at the University of Malaya Medical Centre, Malaysia. Family members who fulfilled clinical or imaging criteria, and patients from two previous published Malaysian families were also included. Six families (eleven cases) were included in this series. Genetic testing revealed NOTCH3 mutations in c.328C>T (p.Arg110Cys, R110C), c.553T>G (p.Cys185Gly, C185G), c.1630C>T (p.Arg544Cys, R544C) and c.160C>T (p.Arg54Cys, R54C). Two out of four Chinese families had R544C mutation in exon 11, with a later age of onset, absence of migraine and lack of anterior temporal pole involvement on MRI. One family with mixed Indian and Chinese ancestry had a mutation in exon 3 with R110C and another Indian family exon 4 with C185G mutation. This case series highlights the genotypic and phenotypic variability of CADASIL in a multi-ethniccountry. The finding of p.Arg544Cys mutation among the older Chinese families, similar to those reported in Jeju Island and Taiwan, suggest the need to screen the older Chinese stroke patients with typical MRI changes.

Matched MeSH terms: Phenotype
Resistance gene cloning from a wild crop relative by sequence capture and association genetics

Arora S, Steuernagel B, Gaurav K, Chandramohan S, Long Y, Matny O, et al.

Nat Biotechnol, 2019 02;37(2):139-143.
PMID: 30718880 DOI: 10.1038/s41587-018-0007-9

Disease resistance (R) genes from wild relatives could be used to engineer broad-spectrum resistance in domesticated crops. We combined association genetics with R gene enrichment sequencing (AgRenSeq) to exploit pan-genome variation in wild diploid wheat and rapidly clone four stem rust resistance genes. AgRenSeq enables R gene cloning in any crop that has a diverse germplasm panel.

Matched MeSH terms: Phenotype
QTL Mapping for Red Blotches in Malaysia Red Tilapia (Oreochromis spp.)

Li BJ, Zhu ZX, Gu XH, Lin HR, Xia JH

Mar Biotechnol (NY), 2019 Jun;21(3):384-395.
PMID: 30863905 DOI: 10.1007/s10126-019-09888-9

Body color is an interesting economic trait in fish. Red tilapia with red blotches may decrease its commercial values. Conventional selection of pure red color lines is a time-consuming and labor-intensive process. To accelerate selection of pure lines through marker-assisted selection, in this study, double-digest restriction site-associated DNA sequencing (ddRAD-seq) technology was applied to genotype a full-sib mapping family of Malaysia red tilapia (Oreochromis spp.) (N = 192). Genome-wide significant quantitative trait locus (QTL)-controlling red blotches were mapped onto two chromosomes (chrLG5 and chrLG15) explaining 9.7% and 8.2% of phenotypic variances by a genome-wide association study (GWAS) and linkage-based QTL mapping. Six SNPs from the chromosome chrLG5 (four), chrLG15 (one), and unplaced supercontig GL831288-1 (one) were significantly associated to the red blotch trait in GWAS analysis. We developed nine microsatellite markers and validated significant correlations between genotypes and blotch data (p

Matched MeSH terms: Phenotype
Fulltext Absence of 1061C deletion in A2 blood subgroup validated through gene sequencing in the Malaysian population

Anbukarsu, Aruna, Mohd Nazif Samat @ Darawi and Mohd Nazil Salleh

Life Sciences, Medicine and Biomedicine, 2019;3(1):1-6.
MyJurnal

ABO blood grouping is an important antigenic blood typing tools in blood transfusion and organ transplants. Mismatching of blood during transfusion would lead to undesired transfusion reactions. Due to rare occurrence of rare blood group such as A2 subtype, regular blood grouping technique would have missed the identification of blood group. Objectives: In this study, the identification of A2 subgroup using routine serological technique was validated via DNA sequencing technique. Materials and Methods: A total of 656 students participated in this study consist of Malay (87.0 %), Chinese (0.4 %), Indian (11.4 %) and others ethnic group (0.9%) respectively. Monoclonal antisera A, B, AB, D, A1 lectin and H lectin were used to identify the antigen on red blood cells. DNA sequence analysis was applied to examine single nucleotide polymorphisms (SNPs) at position 467 (substitution of C>T) and 1061 (deletion of C) on coding region of ABO gene. Results: Our findings showed of 656 blood samples, 256 (39.0%) were blood group O, 190 (29.0%) were blood group B, 179 (27.3%) were blood group A and 31(4.7%) were blood group AB. The frequency of A1 subgroup is 177 (99.0%) and A2 subgroup is 2 (1.0%). From 179 A blood group, only 2 samples showed negative reaction towards anti-A1 lectin. DNA sequence analysis revealed the SNPs at nucleotide 1061 position in sample 2, however this mutation was absence in sample 1, suggesting presence of another mutation that may result in the A2 phenotype. Conclusion: The current study reported the absence of 1061C deletion in A2 blood group sample among Malaysian population.

Matched MeSH terms: Phenotype

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