Displaying publications 1 - 20 of 124 in total

  1. Jackson N, Mohammad S, Zainal N, Jamaluddin N, Hishamuddin M
    Med J Malaysia, 1995 Dec;50(4):421-4.
    PMID: 8668069
    A family demonstrating autosomal dominant thrombocytopenia is described. A 28-year-old Malay housewife was found to have a platelet count of 40 x 10(9)/l with a low mean platelet volume (6.8 fl) while being investigated prior to ovarian cystectomy. The bone marrow was consistent with immune thrombocytopenia but she failed to respond to appropriate therapy. Five siblings, one parent and one nephew have easy bruising and platelet counts of 39-82 x 10(9)/l. Platelet aggregation studies excluded a major functional defect. Survival of homologous platelets in the circulation was normal. Familial thrombocytopenias are rare but important to differentiate from the common acquired thrombocytopenias in order to spare the patient unnecessary treatments.
    Matched MeSH terms: Pedigree
  2. Ismail R, Chan SP
    Med J Malaysia, 1983 Sep;38(3):191-3.
    PMID: 6672560
    Matched MeSH terms: Pedigree
  3. Somasundaram O
    Asian J Psychiatr, 2013 Dec;6(6):506-9.
    PMID: 24309862 DOI: 10.1016/j.ajp.2013.06.003
    This article deals with the presence of hysterical astasia abasia in the father, and cyclothymic disturbance in the elder brother of the great Chola emperor and builder of the Big Temple at Thanjavur, Raja Raja.
    Matched MeSH terms: Pedigree
  4. Hoh BP, Siraj SS, Tan SG, Yusoff K
    Genet. Mol. Res., 2013;12(3):2578-93.
    PMID: 23479146 DOI: 10.4238/2013.February.28.1
    The river catfish Mystus nemurus is an important fresh water species for aquaculture in Malaysia. We report the first genetic linkage map of M. nemurus based on segregation analysis and a linkage map using newly developed microsatellite markers of M. nemurus. A total of 70 of the newly developed polymorphic DNA microsatellite markers were analyzed on pedigrees generated using a pseudo-testcross strategy from 2 mapping families. In the first mapping family, 100 offspring were produced from randomly selected dams of the same populations; dams of the second family were selected from 2 different populations, and this family had 50 offspring. Thirty-one of the 70 markers segregated according to the Mendelian segregation ratio. Linkage analysis revealed that 17 microsatellite markers belonging to 7 linkage groups were obtained at a logarithm of the odds score of 1.2 spanning 584 cM by the Kosambi mapping function, whereas the other 14 remained unlinked. The results from this study will act as primer to a more extensive genetic mapping study aimed towards identifying genetic loci involved in determining economically important traits.
    Matched MeSH terms: Pedigree
  5. Tan CT
    Med J Malaysia, 1980 Dec;35(2):134-8.
    PMID: 7266406
    An Indian family with four members having hereditary ataxia was presented. The inheritance was most likely autosomal dominant. The onset was at adult life. The main disability was cerebellar ataxia with pyramidal tract sign found at physical examination. Electroencephalography and nerve conduction study were abnormal in two cases where they were done. The clinical feature correspond to an intermediate form of hereditary ataxia.
    Matched MeSH terms: Pedigree
  6. George E, Huisman TH, Yang KG, Kutlari F, Wilson JB, Kutlar A, et al.
    Med J Malaysia, 1989 Sep;44(3):259-62.
    PMID: 2626142
    A new haemoglobin, Haemoglobin Malay is described in a 22 year old Malay. Structural analysis showed a AAC----AGC mutation in codon 17, with the production of an abnormal beta chain (beta Malay) that has an Asn----Ser substitution at position beta 19. This haemoglobin variant could not be detected by conventional procedures.
    Matched MeSH terms: Pedigree
  7. Tay CH, Lopez CG, Lazarus AR
    Med J Aust, 1970 Nov 28;2(22):1024-9.
    PMID: 5494950
    Matched MeSH terms: Pedigree
  8. Ganesan J, Gill SS, Lie-Injo LE
    Med J Malaysia, 1974 Jun;28(4):229-33.
    PMID: 4278391
    Matched MeSH terms: Pedigree
  9. Chow TJ, Tee SF, Loh SY, Yong HS, Abu Bakar AK, Tang PY
    Asian J Psychiatr, 2020 Mar;49:101957.
    PMID: 32078952 DOI: 10.1016/j.ajp.2020.101957
    Matched MeSH terms: Pedigree
  10. Shahid M, Azfaralariff A, Tufail M, Hussain Khan N, Abdulkareem Najm A, Firasat S, et al.
    PeerJ, 2022;10:e14132.
    PMID: 36518267 DOI: 10.7717/peerj.14132
    BACKGROUND: Primary congenital glaucoma (PCG) is the most common subtype of glaucoma caused by defects in the cytochrome P450 1B1 (CYP1B1) gene. It is developing among infants in more than 80% of cases who exhibit impairments in the anterior chamber angle and the trabecular meshwork. Thus, a comprehensive in silico approach was performed to evaluate the effect of high-risk deleterious missense variations in the CYP1B1 gene.

    MATERIAL AND METHODS: All the information for CYP1B1 missense variants was retrieved from the dbSNP database. Seven different tools, namely: SIFT, PolyPhen-2, PROVEAN, SNAP2, PANTHER, PhD-SNP, and Predict-SNP, were used for functional annotation, and two packages, which were I-Mutant 2.0 and MUpro, were used to predict the effect of the variants on protein stability. A phylogenetic conservation analysis using deleterious variants was performed by the ConSurf server. The 3D structures of the wild-type and mutants were generated using the I-TASSER tool, and a 50 ns molecular dynamic simulation (MDS) was executed using the GROMACS webserver to determine the stability of mutants compared to the native protein. Co-expression, protein-protein interaction (PPI), gene ontology (GO), and pathway analyses were additionally performed for the CYP1B1 in-depth study.

    RESULTS: All the retrieved data from the dbSNP database was subjected to functional, structural, and phylogenetic analysis. From the conducted analyses, a total of 19 high-risk variants (P52L, G61E, G90R, P118L, E173K, D291G, Y349D, G365W, G365R, R368H, R368C, D374N, N423Y, D430E, P442A, R444Q, F445L, R469W, and C470Y) were screened out that were considered to be deleterious to the CYP1B1 gene. The phylogenetic analysis revealed that the majority of the variants occurred in highly conserved regions. The MD simulation analysis exhibited that all mutants' average root mean square deviation (RMSD) values were higher compared to the wild-type protein, which could potentially cause CYP1B1 protein dysfunction, leading to the severity of the disease. Moreover, it has been discovered that CYP1A1, VCAN, HSD17B1, HSD17B2, and AKR1C3 are highly co-expressed and interact with CYP1B1. Besides, the CYP1B1 protein is primarily involved in the metabolism of xenobiotics, chemical carcinogenesis, the retinal metabolic process, and steroid hormone biosynthesis pathways, demonstrating its multifaceted and important roles.

    DISCUSSION: This is the first comprehensive study that adds essential information to the ongoing efforts to understand the crucial role of genetic signatures in the development of PCG and will be useful for more targeted gene-disease association studies.

    Matched MeSH terms: Pedigree
  11. Jasper M, Schmidt TL, Ahmad NW, Sinkins SP, Hoffmann AA
    Mol Ecol Resour, 2019 Sep;19(5):1254-1264.
    PMID: 31125998 DOI: 10.1111/1755-0998.13043
    Understanding past dispersal and breeding events can provide insight into ecology and evolution and can help inform strategies for conservation and the control of pest species. However, parent-offspring dispersal can be difficult to investigate in rare species and in small pest species such as mosquitoes. Here, we develop a methodology for estimating parent-offspring dispersal from the spatial distribution of close kin, using pairwise kinship estimates derived from genome-wide single nucleotide polymorphisms (SNPs). SNPs were scored in 162 Aedes aegypti (yellow fever mosquito) collected from eight close-set, high-rise apartment buildings in an area of Malaysia with high dengue incidence. We used the SNPs to reconstruct kinship groups across three orders of kinship. We transformed the geographical distances between all kin pairs within each kinship category into axial standard deviations of these distances, then decomposed these into components representing past dispersal events. From these components, we isolated the axial standard deviation of parent-offspring dispersal and estimated neighbourhood area (129 m), median parent-offspring dispersal distance (75 m) and oviposition dispersal radius within a gonotrophic cycle (36 m). We also analysed genetic structure using distance-based redundancy analysis and linear regression, finding isolation by distance both within and between buildings and estimating neighbourhood size at 268 individuals. These findings indicate the scale required to suppress local outbreaks of arboviral disease and to target releases of modified mosquitoes for mosquito and disease control. Our methodology is readily implementable for studies of other species, including pests and species of conservation significance.
    Matched MeSH terms: Pedigree*
  12. Joshi SR
    Immunohematology, 2014;30(1):11-3.
    PMID: 25238244
    The red blood cells (RBCs) of most adult individuals display an I+i- phenotype, whereas those of newborns and some rare adult individuals are typed as I-i+. The phenotype in the latter category, designated as adult i, is under genetic influence as the RBCs of I+i+ individuals display strengths of I and i antigen expression intermediate to that of ordinary adults and ii-adults. As there was no information on the occurrence of adult i phenotype in the Indian population, the present study was undertaken. The RBCs of randomly selected subjects were screened with anti-I and anti-i reagents by a saline tube technique at 220C. Individuals with unusual I and i antigen reactivity patterns were further tested by a semi-quantitative method with a battery of anti-I and anti-i reagents, followed by family studies. Three of the 5864 donors tested showed an elevated strength of i antigen. Further study revealed an intermediate strength of both I and i antigens compared with those on RBCs from adult and cord blood samples. All three probands came from an ethnic Parsi community. The phenotype (referred to as I-int) was shown to be inherited, being passed through two generations, but none of the members of the families had displayed an adult i phenotype. The I-int phenotype detected showed an ethnic association because all three subjects belonged to an endogamous Parsi community that has migrated to India some centuries ago from Persia, the present-day Iran.
    Matched MeSH terms: Pedigree
  13. Goossens B, Setchell JM, James SS, Funk SM, Chikhi L, Abulani A, et al.
    Mol Ecol, 2006 Aug;15(9):2577-88.
    PMID: 16842428
    Behavioural observations suggest that orang-utans are semi-solitary animals with females being philopatric and males roaming more widely in search of receptive partners, leading to the prediction that females are more closely related than males at any given site. In contrast, our study presents evidence for male and female philopatry in the orang-utan. We examined patterns of relatedness and parentage in a wild orang-utan population in Borneo using noninvasively collected DNA samples from animals observed to defecate, and microsatellite markers to assess dispersal and mating strategies. Surprisingly, resident females were equally as related to other resident females (mean r(xy) = 0.303) as resident males were to other resident males (mean r(xy) = 0.305). Moreover, resident females were more related to each other and to the resident males than they were to nonresident females, and resident males were more related to each other (and resident females) than they were to nonresident males. We assigned genetic mothers to 12 individuals in the population, while sires could be identified for eight. Both flanged males and unflanged males achieved paternity, similar to findings reported for Sumatran orang-utans.
    Matched MeSH terms: Pedigree
  14. Spacey SD, Szczygielski BI, Young SP, Hukin J, Selby K, Snutch TP
    Can J Neurol Sci, 2004 Aug;31(3):383-6.
    PMID: 15376485
    BACKGROUND: Friedrich ataxia (FRDA1) is most often the result of a homozygous GAA repeat expansion in the first intron of the frataxin gene (FRDA gene). This condition is seen in individuals of European, North African, Middle Eastern and Indian descent and has not been reported in Southeast Asian populations. Approximately 4% of FRDA1 patients are compound heterozygotes. These patients have a GAA expansion on one allele and a point mutation on the other and have been reported to have an atypical phenotype.

    OBJECTIVE: To describe a novel dinucleotide deletion in the FRDA gene in two Malaysian siblings with FRDA1.

    SETTING: Tertiary referral university hospital setting.

    PATIENTS AND METHODS: A previously healthy 10-year-old Malaysian boy, presented with fever, lethargy, headaches, dysarthria, dysphagia, vertigo and ataxia which developed over a one week period. His neurological exam revealed evidence of dysarthria and ataxia, mild generalized weakness and choreoform movements of the tongue and hands. His reflexes were absent and Babinski sign was present bilaterally. A nine-year-old sister was found to have mild ataxia but was otherwise neurologically intact.

    RESULTS: Molecular genetic studies demonstrated that both siblings were compound heterozygotes with a GAA expansion on one allele and a novel dinucleotide deletion on the other allele.

    CONCLUSIONS: We describe a novel dinucleotide deletion in the first exon of the FRDA gene in two siblings with FRDA1. Additionally this is the first report of FRDA1 occurring in a family of southeast Asian descent, it demonstrates intrafamilial phenotypic variability, and confirms that atypical phenotypes are associated with compound heterozygosity.

    Matched MeSH terms: Pedigree
  15. Kasim MS, Cheah I, Sameon H
    Med J Malaysia, 1995 Jun;50(2):170-5.
    PMID: 7565189
    It has been noted in the literature that Osteogenesis Imperfecta is frequently mistaken for non-accidental injury. This article serves to illustrate the difficulty in differentiating between the two conditions and that they can occur concomitantly in one patient.
    Matched MeSH terms: Pedigree
  16. Yuasa I, Umetsu K, Shotake T, Ishida T, Takenaka O, Terao K, et al.
    Electrophoresis, 1990 Oct;11(10):840-5.
    PMID: 2079025
    Genetic variation of orosomucoid (ORM) in the genus Macaca was investigated. Plasma samples were subjected to isoelectric focusing in a pH range of 4-6.5, followed by immunoprinting with anti-human ORM antibodies. A total of 25 alleles were identified in 231 Asian macaques belonging to 13 species from 23 populations and 22 members belonging to a family of M. fascicularis. Family data presented evidence for a codominant mode of inheritance with multi-alleles at a single autosomal locus. A population study revealed enormous intra- and interspecies variations. The heterozygosity values varied from 0.855 in M. fascicularis (Malaysia) to 0.000 in M. radiata (India), M. silenus (India) and M. arctoides (Malaysia).
    Matched MeSH terms: Pedigree
  17. Lim YH, Ng SP, Jamil MA
    J Obstet Gynaecol Res, 2003 Dec;29(6):399-401.
    PMID: 14641689 DOI: 10.1111/j.1341-8076.2003.00136.x
    Imperforate hymen is an uncommon obstructive anomaly of the female reproductive tract, which usually presents with intermittent and cyclical abdominal pain. Although it is usually sporadic, four cases of familial occurrence of imperforate hymen have been reported so far. Imperforate hymen is seldom associated with complications if it is detected early. In view of the possible familial occurrence, it is important to have a high index of suspicion in women who present with imperforate hymen. A detailed menstrual history of other female family members is necessary to enable early detection.
    Matched MeSH terms: Pedigree
  18. Annavi G, Newman C, Dugdale HL, Buesching CD, Sin YW, Burke T, et al.
    J Evol Biol, 2014 Oct;27(10):2191-203.
    PMID: 25234113 DOI: 10.1111/jeb.12473
    Extra-group paternity (EGP) occurs commonly among group-living mammals and plays an important role in mating systems and the dynamics of sexual selection; however, socio-ecological and genetic correlates of EGP have been underexplored. We use 23 years of demographic and genetic data from a high-density European badger (Meles meles) population, to investigate the relationship between the rate of EGP in litters and mate availability, mate incompatibility and mate quality (heterozygosity). Relatedness between within-group assigned mothers and candidate fathers had a negative quadratic effect on EGP, whereas the number of neighbouring-group candidate fathers had a linear positive effect. We detected no effect of mean or maximum heterozygosity of within-group candidate fathers on EGP. Consequently, EGP was associated primarily with mate availability, subject to within-group genetic effects, potentially to mitigate mate incompatibility and inbreeding. In badgers, cryptic female choice, facilitated by superfecundation, superfoetation and delayed implantation, prevents males from monopolizing within-group females. This resonates with a meta-analysis in group-living mammals, which proposed that higher rates of EGP occur when within-group males cannot monopolize within-group females. In contrast to the positive meta-analytic association, however, we found that EGP associated negatively with the number of within-group assigned mothers and the number of within-group candidate fathers; potentially a strategy to counter within-group males committing infanticide. The relationship between the rate of EGP and socio-ecological or genetic factors can therefore be intricate, and the potential for cryptic female choice must be accounted for in comparative studies.
    Matched MeSH terms: Pedigree
  19. Lie-Injo LE, Fix A, Bolton JM, Gilman RH
    Acta Haematol., 1972;47(4):210-6.
    PMID: 4625303
    Matched MeSH terms: Pedigree
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