中国贵州省β-地中海贫血突变谱，包括在中国人群中首次观察到密码子 121（GAA>TAA）。
Spectrum of β-thalassemia mutations in Guizhou Province, PR China, including first observation of codon 121 (GAA>TAA) in Chinese population.
机构信息
Department of Laboratory, Guizhou Provincial People's Hospital, No. 83 East Zhongshan Road, Guiyang 550002, Guizhou, PR China.
出版信息
Clin Biochem. 2013 Dec;46(18):1865-8. doi: 10.1016/j.clinbiochem.2013.09.014. Epub 2013 Sep 27.
OBJECTIVES
Although the population prevalence and mutation spectrum of β-thalassemia in most areas of south China have been characterized, the mutations have not been elucidated in Guizhou Province. The aim of this study was to investigate the spectrum of β-thalassemia in this province.
DESIGN AND METHODS
We detected and analyzed β-globin gene mutations in 407 β-thalassemia patients and carriers by PCR-based reverse dot blot (RBD) and direct sequencing methods.
RESULTS
Twelve types of β-globin gene mutations were detected. Among the 12 different mutations, six mutations are common, accounting for 97% of mutated alleles. The most prevalent mutation is codon 17 (A→T) with an allele frequency of 40.7%. In addition, codon 121 (GAA>TAA), a rare dominant mutation, was detected in a patient with β-thalassemia intermedia for the first time in China.
CONCLUSIONS
The results of this study will be useful in genetic counseling and prenatal diagnostic service of β-thalassemia in Guizhou Province.
目的
尽管中国南方大部分地区的β-地中海贫血的人群患病率和突变谱已得到描述，但贵州省的突变情况仍未阐明。本研究旨在调查该省的β-地中海贫血突变谱。
设计和方法
我们采用基于 PCR 的反向斑点杂交（RBD）和直接测序方法检测和分析了 407 例β-地中海贫血患者和携带者的β-珠蛋白基因突变。
结果
共检测到 12 种β-珠蛋白基因突变。在这 12 种不同的突变中，有 6 种突变是常见的，占突变等位基因的 97%。最常见的突变是密码子 17（A→T），其等位基因频率为 40.7%。此外，在中国首次在一位β-地中海贫血中间型患者中检测到罕见的显性突变密码子 121（GAA>TAA）。
结论
本研究结果将有助于贵州省β-地中海贫血的遗传咨询和产前诊断服务。
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