MOLECULAR AND POPULATION GENETIC-ANALYSIS OF ALLELIC SEQUENCE DIVERSITY AT THE HUMAN BETA-GLOBIN LOCUS

被引：96

作者：

FULLERTON, SM ^{[1
]}

HARDING, RM ^{[1
]}

BOYCE, AJ ^{[1
]}

CLEGG, JB ^{[1
]}

机构：

[1] UNIV OXFORD,INST BIOL ANTHROPOL,OXFORD OX2 6QS,ENGLAND

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1994年 / 91卷 / 05期

基金：

英国惠康基金;

关键词：

MELANESIA; ALLELE-SPECIFIC AMPLIFICATION; RECOMBINATION; GENE CONVERSION; EVOLUTION;

D O I：

10.1073/pnas.91.5.1805

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Allelic sequence polymorphism at the beta-globin locus was investigated in a group of 36 Melanesians. A 3-kilobase fragment containing the gene and its flanking regions was sequenced in 60 normal (beta(A)) and 12 thalassemic (intron 1, position 5, G --> C) chromosomes. Haplotype relationships between linked polymorphisms were derived by allele-specific PCR amplification and sequencing. Seventeen nucleotide polymorphisms and 2 length variants were identified, and these sites segregated as 17 sequence haplotypes in the normal chromosomes. This haplotype diversity is higher than that expected on the basis of the nucleotide polymorphism observed and is probably due to recombination and gene conversion. Nucleotide diversity at synonymous sites in the sample is 0.14%, suggesting an average age of sequence divergence of approximate to 450,000 years, consistent with that expected for a neutrally evolving human nuclear locus.

引用

页码：1805 / 1809

页数：5

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