ABO and Rh D polymorphism among Tibetans in India
Vikal Tripathy1, Kanhu Charan Satapathy, Ranjan Gupta
1Biological Anthropology Unit, Indian Statistical Institute, 203 Barrackpore Truck Road, 700108 Kolkata.
Human Biology
|October 14, 2006
Summary
This study analyzed ABO and Rh D blood group allele frequencies in 923 exiled Tibetans in India. Findings indicate genetic stability across locations and an East Asian affinity, with ABO system in Hardy-Weinberg equilibrium.
Area of Science:
- Population genetics
- Human genetics
- Anthropology
Background:
- ABO and Rh D blood group systems are crucial for human genetic diversity studies.
- Understanding genetic polymorphisms in isolated populations like Tibetans provides insights into migration and adaptation.
- Previous studies on Tibetan populations have shown varying genetic profiles.
Purpose of the Study:
- To determine the allele frequencies of the ABO and Rh D blood group systems in exiled Tibetan populations in India.
- To investigate potential genetic variations across different geographical locations (high and low altitudes).
- To assess the genetic equilibrium and population affinities of this Tibetan cohort.
Main Methods:
- Blood samples were collected from 923 exiled Tibetans residing in four distinct locations in India.
- ABO and Rh D blood group typing was performed using standard serological methods.
- Allele frequencies were calculated and statistically analyzed to compare groups and test for Hardy-Weinberg equilibrium.
Main Results:
- The allele frequencies for the ABO system were p=0.1295, q=0.2544, and r=0.6152.
- The allele frequencies for the Rh D system were D=0.9428 and d=0.0572.
- No significant differences in allele frequencies were observed among the four study locations.
- The ABO blood group system was found to be in Hardy-Weinberg equilibrium.
Conclusions:
- Exiled Tibetan populations in India exhibit stable ABO and Rh D allele frequencies irrespective of altitude.
- The observed allele frequencies suggest a genetic affinity with East Asian populations.
- The Hardy-Weinberg equilibrium for the ABO system indicates a lack of significant evolutionary pressure in this cohort.
Related Concept Videos
Epistasis
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Epistasis Analysis
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
Exon Recombination
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Limits to Natural Selection
Organisms that are well-adapted to their environment are more likely to survive and reproduce. However, natural selection does not lead to perfectly adapted organisms. Several factors constrain natural selection.For one, natural selection can only act upon existing genetic variation. Hypothetically, redtusks may enhance elephant survival by deterring ivory-seeking poachers. However, if there are no gene variants—or alleles—for redtusks, natural selection cannot increase the prevalence of...
Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...


