中国南方β地中海贫血突变的分布及其与单倍型的关联。
Distribution of beta-thalassemia mutations in south China and their association with haplotypes.
作者信息
Chan V, Chan T K, Chebab F F, Todd D
机构信息
University Department of Medicine, Queen Mary Hospital, Hong Kong.
出版信息
Am J Hum Genet. 1987 Oct;41(4):678-85.
Abstract
DNA from 93 Chinese beta-thalassemia chromosomes were hybridized to eight different mutant oligomers to determine their specific mutation. Four mutations accounted for 87% of the chromosomes; in descending frequencies, these mutations were codon 41/42, IVS-2 nt654, codon 17, and -28. Since codon 41/42 mutation can be associated with multiple beta-thalassemia haplotypes, codon 41/42 is probably a hot spot for the 4-bp deletion. The distributions of these mutations were mapped to various regions in south China. These data are useful for the planning of prenatal diagnosis programs in other Chinese communities worldwide.
摘要
对93条中国β地中海贫血染色体的DNA与8种不同的突变寡聚体进行杂交，以确定其特定突变。四种突变占染色体的87%；按频率递减顺序，这些突变依次为密码子41/42、IVS-2 nt654、密码子17和-28。由于密码子41/42突变可与多种β地中海贫血单倍型相关，密码子41/42可能是4碱基缺失的热点。这些突变的分布被绘制到中国南方的不同地区。这些数据有助于全球其他华人社区产前诊断项目的规划。
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