Tracing the origin of HLA-DRB1 alleles by microsatellite polymorphism

Article Abstract:

Phylogenetic analysis has been employed to investigate the origin of diversity in HLA-DRB1 alleles, using a complex microsatellite in intron 2. Sequences were compared in humans, gorillas and chimpanzees. A posited ancestral structure of (GT)x(GA)y-complex-dinucleotide repeat has been modified, mostly by point mutations, in three main directions. The (Ga)y repeat has been interrupted at various locations, the (GT)x repeat has been modified, and the length of the (GT)x and (Ga)y repeats has been altered.

HLA class II antigens

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Calpainopathy - a survey of mutations and polymorphisms

Article Abstract:

Defects in the human CAPN3 gene are associated with limb-girdle muscular dystrophy type 2A. The CAPN3 gene encodes a form of calpain specific to skeletal muscles. Ninety-seven different pathogenic mutations in CAPN3 have been identified, distributed across the gene's entire length. The mutations include 4 nonsense mutations, 32 deletions or insertions, 8 splice-site mutations, and 53 missense mutations. Twelve polymorphisms and five unclassified variants have also been found.

Gene mutations, Gene mutation, Muscular dystrophy, Calpain

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DNA polymorphisms in two paraoxonase genes (PON1 and PON2) are associated with the risk of coronary heart disease

Article Abstract:

A study of DNA polymorphisms in two paraoxonase genes (PON1 and PON2) in Asian Indians found two polymorphisms that function synergistically to raise the risk of coronary heart disease. One common polymorphism is located in the PON 2 gene at codon 311 and the other is in the PON 1 gene at codon 192.

Risk factors, Coronary heart disease

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