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目的初步了解CD37(TGG→TAG)突变在罕见β地中海贫血病例中的出现比例,以及此突变籍贯分布情况,为基因诊断和产前基因诊断提供参考。方法收集罕见β地贫病例共6例,利用PCR结合DHPLC及DNA序列测定进行CD37(TGG→TAG)突变的检查。结果 6例标本有5例为CD37(TGG→TAG)突变杂合子,占绝大多数;5病例籍贯涉及广东、广西及吉林。结论 CD37(TGG→TAG)突变或许并不十分罕见,并且可能存在于中国多个籍贯人群中,有必要将此突变纳入常规检测范围内。DHPLC结合DNA序列测定可以有效地对CD37(TGG→TAG)突变进行诊断。
Objective To understand the occurrence of CD37 (TGG → TAG) mutations in rare β-thalassemia cases and the origin of this mutation, and provide a reference for gene diagnosis and prenatal diagnosis. Methods A total of 6 cases of rare β-thalassemia were collected. The mutation of CD37 (TGG → TAG) was detected by PCR combined with DHPLC and DNA sequencing. Results Of the 6 specimens, 5 were heterozygous mutation of CD37 (TGG → TAG), accounting for the vast majority; 5 cases of native origin involved in Guangdong, Guangxi and Jilin. Conclusions The mutation of CD37 (TGG → TAG) may not be very rare, and may exist in multiple natives in China. It is necessary to include this mutation in routine testing. DHPLC combined with DNA sequencing can effectively diagnose CD37 (TGG → TAG) mutations.