【摘要】 目的 :了解产前基因诊断后出生的女孩健康情况。方法 :应用限制性内切酶片段长度多态性 (RFLP)分析、血清CK及健康体检随访。结果 :产前基因诊断女孩携有 87-15的 9.4Kb片段 ,CK2 6 5U /L ,是杜氏肌营养不良症(DMD)致病基因携带者 ,现生长发育正常 ,排除她不是Duchenne(DMD)型肌营养不良症患者或有症状的DMD的女性携带者。结论 :本家是由DMD致病基因遗传所致 ,两名男性患者 ,发病年龄均在 2～ 3岁 ,十年后随访 ,Ⅱ 4死于本病 ,Ⅲ1不能形走 ,生活不能自理。产前诊断女孩 (Ⅲ 2 )只有血清酶学具有DMD阳性特征 ,随访支持产前诊断结果 ,对指导女性DMD基因携带者的生育具有重要意义。更多还原

【Abstract】 Objective:To investigate the health status of the girl born after prenatal gene diagnosis.Methods:The girls health condition was analyzed by RFLP,serum CK level and physical examination.Results:The girl born after prenatal gene diagnosis carried a 9.4Kb fragment by PERT 87-15 and her serum CK level reached to 265U/L,otherwise her growth development was normal.Duchenne muscular dystrophy(DMD)or a carrier with DMD symptoms can be ruled out.Conclusion:Duchenne muscular dystrophy is a gene inherited disease.Two male patients of the DMD family surveyed all were sick of the disease at the age of 2 or 3,and during ten-year follow-up Ⅱ4 died and Ⅲ1 can not walk and cannt manage his own living.The girl(Ⅲ2)diagnosed before her birth only show positive characteristic of having DMD in serum enzymology.Findings of the follow-up study support the results of prenatal gene diagnosis and it is of important significance to instrut female of DMD-gene carrier in child-bearing.更多还原