Distribution of beta-thalassemia mutations in south China and their association with haplotypes.
Distribution of beta-thalassemia mutations in south China and their association with haplotypes.
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DOI：
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发表时间：
1987-10
影响因子：
9.8
通讯作者：
V. Chan;T. Chan;F. F. Chebab-F.;D. Todd
中科院分区：
文献类型：
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作者：
V. Chan;T. Chan;F. F. Chebab-F.;D. Todd
用8种不同的突变寡聚体与93条中国人β-地中海贫血染色体的DNA杂交，以确定它们的特异性突变。四个突变占染色体的87%;在降序频率中，这些突变是密码子41/42、IVS-2 nt 654、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，因此密码子41/42可能是4-bp缺失的热点。这些突变的分布在中国南方的不同地区。这些数据对全球其他华人社区产前诊断计划的规划是有用的。
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.