Mapping Recombination Hotspots in Human Phosphoglucomutase (PGM1)
نویسندگان
چکیده
منابع مشابه
Mapping recombination hotspots in human phosphoglucomutase (PGM1).
Human phosphoglucomutase (PGM1) is a highly poly-morphic protein. Three mutations and four intragenic recombination events between the three mutation sites generate eight protein variants including the four universally common alleles, 1+, 1 -, 2+ and 2 -, and four others that are polymorphic in some Oriental populations, 3+, 3-, 7+ and 7-. The mutations 3/7, 2/1 and +/-are in exons 1A, 4 and 8,...
متن کاملThe classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination.
The molecular basis of the classical human phosphoglucomutase 1 (PGM1) isozyme polymorphism has been established. In 1964, when this genetic polymorphism was first described, two common allelozymes PGM1 and PGM1 2 were identified by starch gel electrophoresis. The PGM1 2 isozyme showed a greater anodal electrophoretic mobility than PGM1 1. Subsequently, it was found that each of these allelozym...
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The distribution of linkage disequilibrium (LD) in the human genome has important consequences for the design of experiments that infer susceptibility genes for complex disease using association studies. Recent studies have shown a non-random distribution of human meiotic recombination associated with intervening tracts of LD. Little is known about the processes, patterns and frequency of recip...
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Meiotic recombination in humans is thought to occur as part of the resolution of DSBs (double-strand breaks). The repair of DSBs potentially leads to biases in DNA repair that can distort the population frequency of the alleles at single-nucleotide polymorphisms. Genome-wide variation data provide evidence for a weak fixation bias in favour of G and C alleles that is strongest at the centre of ...
متن کاملPhylogenetic mapping of recombination hotspots in human immunodeficiency virus via spatially smoothed change-point processes.
We present a Bayesian framework for inferring spatial preferences of recombination from multiple putative recombinant nucleotide sequences. Phylogenetic recombination detection has been an active area of research for the last 15 years. However, only recently attempts to summarize information from several instances of recombination have been made. We propose a hierarchical model that allows for ...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1999
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/8.9.1699