摘要
为研究不同民族β地中海盆血（β地贫）的基因突变，作者应用聚合酶链反应（ＰＣＲ）结合等位基因特异性寡核苷酸（ＡＳＯ）探针点杂交技术，对现居新疆的一个布依族家系的β地贫进行了基因分析，发现其中两名成员为－２８（Ａ→Ｇ）和ＣＤ１７（Ａ→Ｔ）的双重杂合体。结合家系调查表明，为同一染色体上的双重突变，文献中未见报道。这种基因的携带者表现为轻型β地中海贫血。从而为认识β地贫高度的异质性、为研究我国少数民族β地贫的基因背景，积累了有意义的资料。
Gene analysis of a family of Buyi nationality with β-thalassemia in Xinjiang was carried out by polymerase chain reaction(PCR) in combination with dot-blot hybridization of allele-specific oligonucleotide(ASO) probes. Two of the four family members were identified as the double heterozygotes for -28(A→G)and CD17(A→T)mutation. Gene alogical analysis demonstrated that these two different mutations occurred on a chromosome.This double mutant allele had not been observed in the Chinese population before. The carriers had mild clinical symptoms and still belonged to β-thalassemia minor.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1996年第1期5-7,共3页
Chinese Journal of Medical Genetics
关键词
Β地中海贫血
突变杂合体
寡核苷酸
探针杂交
β-thalassemia Double heterozygote Polymerase chain reaction Oligonucleotide probe hybridization
