摘要
目的通过分析1例Duchenne型肌营养不良症家系患者的临床资料,对家系相关成员进行了遗传优生咨询和生殖干预,以期减少或避免患儿的出生。方法全面家系调查后绘制系谱图并进行遗传学分析、再发风险评估和遗传优生咨询。结果以先证者为线索调查此家系四代33人,其中有患者5例,均为男性。对家庭成员进行了有效的生殖干预,避免了患儿的再出生。结论对家系成员进行生殖干预对避免患儿的出生有重要指导意义;由于本病迄今尚无有效治疗方法,系谱分析、携带者筛查及产前诊断是预防本病的关键。
Objective： By analyzing one case of Duchenne muscular dystrophy family clinical data,genetic counseling and eugenic reproductive intervention were conducted for relevant family members with the expectation to reduce or avoid the birth of carrier offspring.Method： to do a comprehensive family survey and draw a genealogy,and to perform genetic analysis,recurrence risk assessment and genetic counseling eugenics.Result： Four generations of 33 people of the family were investigated by taking the proband as a clue.5 patients were found,all male.The birth of carrier offspring were effectively avoided after reproductive intervention.Conclusion： Reproductive intervention for family members is important to avoid the birth of carrier offspring;As there is no effective treatment for the disease,pedigree analysis,carrier screening and prenatal diagnosis are the keys to preventing this disease.
出处
《襄樊职业技术学院学报》
2012年第1期48-50,共3页
Journal of Xiangfan Vocational and Technical College
