Huntington舞蹈病一家系临床遗传学分析

目的通过分析Huntington舞蹈病一家系临床资料并对症前高风险成员进行再发风险预测,为该病的基因诊断和遗传咨询提供科学依据。方法全面的家系调查、深入的系谱分析和主动的遗传优生咨询。结果以先证者为线索深入调查此家系4代39人,家系中有Htington舞蹈病患者7例,3男4女;高风险者7名,需进一步进行基因诊断。结论此病为常染色体显性遗传病;体现了延迟显性、遗传印记和遗传早现等遗传学特征;对家系高风险者进行婚育指导和症前、孕前、产前诊断对避免患儿的出生具有重要意义。

Clinical-Genetic Analysis of the Huntington Chorea

OBJECTIVE To analyze the clinical data of a Huntington Chorea family and predicting the recurrence risk before symptomatic recurrence for high-risk members,provide scientific basis for genetic disease diagnosis and counseling.METHODS Comprehensive family survey,in-depth genetic pedigree analysis and proactive eugenic counseling were conducted.RESULTS We took the proband as a clue to look into the four generations of a family with 39 people,7 of them(3 males and 4 females)had Huntington Chorea,another 7 had high risk who were subjects to further genetic diagnosis.CONCLUSION The Huntington Chorea is autosomal dominant inheritance.It features delayed dominance,genetic imprinting,genetic anticipation and other genetic characteristics.For families at high risk,it is critical to provide guidance on marriage and child rearing,pre-pregnancy and prenatal diagnosis in order to avoid the birth of children with the disease.