一例罕见的Chinese Gγ（Aγδβ）°-thal纯合子的基因检测及临床表型分析  

Genetic and phenotypic analysis of a rare case with homozygous Chinese Gγ（Aγδβ）°-thai deletion

作　　者：张强 张艺佳 徐惠玲 许明丽 温晓君[2] 徐湘民[2] 周万军[2] Zhang Qiang , Zhang Yijia , Xu Huiling , Xu Mingli , Wen Xiaojun , Xu Xiangmin , Zhou Wanjun(Prenatal Diagnostic Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning , Guangxi 530033, China ; Department of Medical Genetics, School of Basic Medical Science, Southern Medical University, Guangzhou, Guangdong 510515, China)

机构地区：[1]广西壮族自治区妇产医院儿童医院产前诊断中心,南宁530033 [2]南方医科大学基础医学院医学遗传学研究室,广州510515

出　　处：《中华医学遗传学杂志》2018年第4期553-556,共4页Chinese Journal of Medical Genetics

摘　　要：目的对1例可疑的地中海贫血患者进行鉴定，明确其基因型。方法应用检测已知地中海贫血突变的常规方法[反向点杂交与跨越断裂点PCR（Gap-PCR）]结合多重连接探针扩增检测患者的基因型，设计相应的引物，建立检测该突变的Gap-PCR方法。结果 患者的基因型被确定为-Chinese Gγ（Aγδβ）°/-Chinese Gγ（Aγδβ）°，其血液学特征和临床症状偏向于中重度贫血。所建立的Gap-PCR体系能够对Chinese Gγ（Aγδβ）°-thai进行准确的检测。结论Chinese Gγ（Aγδβ）°-thal在中国南方地区具有一定的发生率，应引起重视。应用Gap-PCR体系能够对该突变进行简单快捷的检测，适于推广。Objective To analyze the genotype of a patient suspected for thalassemia through a series of experiments. Methods Conventional methods for detecting common thalassemia mutations was used in conjunction with multiplex ligation-dependent probe amplification （MLPA） in order to determine the genotype of the patient. Corresponding primers were designed for developing a Gap-PCR system for detecting rare type mutations. Results The patient was identified as a homozygote for Chinese Gγ（Aγδβ）°- thal deletion, with clinical manifestations tending to be intermediate or severe based on the hematological characteristics. A Gap-PCR system has been developed for detecting the above mutation with accuracy and rapidity. Conclusion The Chinese Gγ（Aγδβ）°-thal is prevalent in southern China, and caution should be taken to avoid misdiagnosis. The Gap-PCR system for detecting Chinese Gγ（Aγδβ）°-thal is suitable for extended applications for its simplicity and rapidity.

关 键 词：缺失型地中海贫血 CHINESE Gγ(Aγδβ)°-thal突变 地中海贫血 

分 类 号：R440[医药卫生—诊断学] R556.61[医药卫生—临床医学]