Salivary agglutinins in an Indian population

Saliva samples from 239 Punjabis have been analysed for the presence of anti-A and anti-B. Agglutinins have been found to be present in 35.98 per cent of the saliva samples studied. The amount of agglutinin present varies from one individual to another. Anti-A has been found to occur more frequently than anti-B among the Punjabis and most of the other populations studied so far.     

Recent admixture in an Indian population of African ancestry

Identification and study of genetic variation in recently admixed populations not only provides insight into historical population events but also is a powerful approach for mapping disease loci. We studied a population (OG-W-IP) that is of African-Indian origin and has resided in the western part of India for 500 years; members of this population are believed to be descendants of the Bantu-speaking population of Africa. We have carried out this study by using a set of 18,534 autosomal markers common between Indian, CEPH-HGDP, and HapMap populations. Principal-components analysis clearly revealed that the African-Indian population derives its ancestry from Bantu-speaking west-African as well as Indo-European-speaking north and northwest Indian population(s). STRUCTURE and ADMIXTURE analyses show that, overall, the OG-W-IPs derive 58.7% of their genomic ancestry from their African past and have very little inter-individual ancestry variation (8.4%). The extent of linkage disequilibrium also reveals that the admixture event has been recent. Functional annotation of genes encompassing the ancestry-informative markers that are closer in allele frequency to the Indian ancestral population revealed significant enrichment of biological processes, such as ion-channel activity, and cadherins. We briefly examine the implications of determining the genetic diversity of this population, which could provide opportunities for studies involving admixture mapping.     

Hemoglobin E distribution in ten endogamous population groups of Assam, India

Previous studies have reported a high incidence of hemoglobin E (HbE) in Northeast Indian populations. In the present study 10 endogamous populations of Assam belonging to two racial groups, Caucasoid and Mongoloid, were examined. The frequency of HbE gene (Hb beta E) in the Caucasoid caste populations is around 0.1, whereas the gene is highly prevalent in the Mongoloid populations, frequencies ranging between 0.2 and 0.6. Predominance of Hb beta E in the Tibeto-Burman speakers is contrary to observations made in Southeast Asia, where an association between Austro-Asiatic speakers and high prevalence of HbE exist. The highest occurrence of the gene in this area, which is on the far end of the proposed centre of distribution in Northern Kampuchea and Northeast Thailand, is also a deviation from the expected pattern of gene distribution. It is speculated that Hb beta E in the Tibeto-Burman populations of Assam arose by an independent mutation which contributed to the high frequencies of Hb beta E in the Northeast Indian populations.     

ABO blood groups and fertility in an Indian population

A total of 589 compatible mating couples could be investigated against 432 incompatible mating couples in order to determine the selective mechanism operating on ABO blood groups. There appears to be no striking difference in the proportion of childless couples between the two groups. The mean number of living children presents a significant difference. There is 21% deficiency of 'A' children in the two groups. Similarly, there is 16% deficiency of 'B' children in the two groups. It appears that there is 31.9% fetal wastage in incompatible matings as compared with 17.15% in compatible matings.     

Y-haplotypes and idiopathic male infertility in an Indian population

Infertility being a multifactorial disorder, both genetic and environmental factors contribute to the etiology of infertile phenotype. Chromosomal anomalies and Y-microdeletion are the established genetic risk factors of male infertility. Y-haplotypes has been found as risk factor for male infertility in certain populations, though in certain others no association has been reported, suggesting a population-specific association of these variations with male infertility. In a case-control study, 165 azoo-/oligospermic patients and 200 controls were haplotyped for certain Y-haplogroups for a possible association with idiopathic male infertility in an Indian population. Analysed Y-haplogroups showed no association with infertile phenotype. Thus this genetic factor is not a risk for infertility in the studied Indian population but that does not rule out the possibility of any of them, to be a risk in other populations.     

Genetic polymorphism analysis among nine endogamous population groups of Maharashtra,India

The present paper reports results of analysis of 14 genetic marker systems-ABO, MN, Rh, Hp, Tf, Cp, Alb, AcPH, PGM, LDH, MDH, Est-D, Hb and G-6-PD studied on a number of subjects of 9 endogamous groups of Maharashtra: Bhils, Katkaris and Pawaras, (all tribal groups); Deshastha Rigvedi and Chitpavan (two Brahmin groups); Nava Budhas (a scheduled caste); Chandrasenya Kayastha Prabhu and Marathas (two middle caste groups); and Parsis a migrant group from west Asia. Analysis of heterogeneity of gene frequencies reveal considerable heterogeneity for most of the loci among these groups.     

Familial appraisal of colorblindness in school children of an Indian population

A total 2000 unrelated school children were screened for colorblindness in Vishakhapatnam, India. Whether the protan and deutan defects are the result of mutations at one locus or at two loci has not been completely resolved, although the evidence favors two discrete loci. The investigation was extended to the families of the 40 color vision anomalous children to study the descendance patterns of these two loci. The importance of these observations are discussed.     

Jugular foramen and mylohyoid bridging in an Asian Indian population

The incidence of jugular foramen and mylohyoid groove bridging was studied in a population of East Asian Indian skulls (125 males and 109 females). The criteria of Dodo (J. Anat. 144:153-165, 1986) was used in the identification of a jugular bridge. There was an overall incidence of 8.1% in jugular foramen bridging, with males showing a higher rate, though the difference did not reach statistical significance. The right side showed a statistically significant greater occurrence than the left, and the trait tended to be associated between sides. The overall incidence of mylohyoid bridging was found to be 2.6%, with no difference observed between the sexes. This frequency is less than the values reported for other Asian Indian studies. Studies concerned with the incidences of nonmetric traits such as bony bridging may be useful in population studies especially when utilized in combination, thereby enhancing the value of each trait as an anthropological tool.     

Genetic distance analysis among nine endogamous population groups of Maharashtra,India

Genetic distance analysis based on 16 biochemical markers, following Nei's distance measure has been performed on nine endogamous groups of Maharashtra: Nava Budha, Maratha, Deshastha Rigvedi Brahmin, Chitpavan Brahmin, Chandrasenya Kayastha Prabhu, Parsis, Bhil, Pawara and Katkari. The distances between these groups are small as compared to the within group heterogeneity. The average heterozygosity per gene per locus is high for all the populations (in the range of 20–22%). The observed clusterings among these nine groups, in general, are compatible with the known ethnic history of Maharashtra.     

Genetic analysis of OCT1 gene polymorphisms in an Indian population

BACKGROUND:

Genetic variants of the organic cation transporter (OCT1) gene could influence interindividual variation in clinical response to metformin therapy. The genetic basis for the single-nucleotide polymorphism (SNP) of OCT1 gene has been established in other populations, but it remains to be elucidated in the Indian population. This study is focused on OCT1 gene variants rs2282143 (P341L, 1022C>T), rs628031 (M408V, 1222A>G) and rs622342 (1386C>A) frequency distributions in the South Indian Tamilian population.

MATERIALS AND METHODS:

A total of 112 unrelated healthy subjects of South Indian Tamilian origin, aged 18–60 years, of either sex were recruited for the study. Genotyping was determined using the quantitative real time-polymerase chain reaction and polymerase chain reaction followed by restriction fragment length polymorphism methods.

RESULTS:

Allele frequencies of rs2282143, rs628031and rs622342 polymorphisms were 8.9%, 80.3% and 24.5%, respectively. Interethnic differences in the genotype and allele frequencies of OCT1 gene polymorphism were observed when compared with other major populations. The SNPs rs2282143, T allele and rs628031, G allele were more common in Asians (5.5–16.8% and 76.2–81%) and African Americans (8.2% and 73.5%) than in Caucasians (0–2% and 57.4–60%).

CONCLUSION:

This is the first time the frequency of OCT1 gene polymorphism was determined in the Indian population, and is similar to the frequencies observed in African-Americans and other Asian populations but different from those in Caucasians. The data observed in this study would justify further pharmacogenetic studies to potentially evaluate the role of OCT1 gene polymorphism in the therapeutic efficacy of metformin.     

Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal

Brachymesophalangia-V (BMP-V), a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3). A high prevalence of BDA3 has been observed among the children of the Jirel ethnic group in eastern Nepal. As part of the Jiri Growth Study, a hand-wrist radiograph is taken annually of each child to assess skeletal development. For this study the most recent radiographs of 1,357 Jirel children, adolescents, and young adults (676 boys, 681 girls), age 3-20 years, were examined for the presence or absence of BDA3, to report the prevalence and estimate the heritability of BDA3 in the Jirel population. The overall prevalence of BDA3 in this sample was 10.5% (12.9% of the males and 8.9% of the females were classified as BDA3 affected). The additive genetic heritability of BDA3 was statistically significant in this sample (h2 +/- SE = 0.87 +/- 0.16, p < 0.0001). This study is the first to estimate the prevalence and heritability of BDA3 in a large South Asian family-based sample.     

STR markers for detecting heterogeneity in Indian population

Short tandem repeats are highly polymorphic sequences of nucleotides, which are abundant in eukaryotic genome. They form approximately 3% of the total human genome and occur on average in every 10, 000 nucleotides. Due to their small dimension, low mutation, and high level of polymorphism, these markers are intensely used as important genetic markers for mapping studies, disease diagnosis, and human identity testing. In the present study allelic distribution of four autosomal short tandem repeat markers (D21S2055, D21S11, D21S1435 and D21S1411) has been analyzed in Indian population. For determination of heterogeneity and their allelic frequency QF-PCR analysis have been done. All the loci were found highly polymorphic. Marker D21S1411 was the most informative (93.6%) and D21S1435 (70.1%) was the least informative marker in Indian population.