摘要
目的 对贝克氏型肌营养不良症女性患者的家系追踪研究。方法 磷酸肌酸激酶、α 羟丁酸脱氢酶、乳酸脱氢酶等采用酶速率法测定 ,肌酸激酶同工酶 ,采用选择性抑制法测定。肌红蛋白采用ELISA法。基因分析 ,抽提家系成员的DNA ,进行PCR扩增 ,扩增片段长度多态性的检测采用银染色法。结果 先证者的母亲的肌酸激酶等酶升高 ,先证者及 2个妹妹的肌酸激酶、肌红蛋白显著异常升高。基因分析 ,家系 1 (Ⅰ 2 )先证者母亲的MP1P 5′CA 4 4、4 9片段为杂合 ,先证者 (Ⅱ 1 )未检出杂合片段 ,先证者的 2个妹妹 (Ⅱ 2、Ⅱ 3)的 5′CA4 5内含子有杂合。结论 先证者的母亲是贝克氏型肌营养不良症致病基因携带者 ,先证者父母是近亲婚配 ,近亲婚配的遗传效应很高 ,她将致病基因遗传给先证者及 2个女儿 ,使兄妹 3人都是贝克氏型肌营养不良症患者。
Objective To investigate the genealogical tree of women with Becker muscular dystrophy (BMD).Methods Creatine phosphate kinase(CK), hydroxybutyric dehydrogenase and lactic hydrogenase were determined by selective suppression test, and myohemoglobin was detected by ELISA.DNA from the family members was assayed by PCR and the amplified fragment length polymorphism by silver staining method.Results CK of proband′s mother was above normal.CK and myohemoglobin of proband and his two young sisters were much higher than normal.MP1P 5′CA44 and 49 fragments of proband′s mother from family 1(I2) were heterozygous.Heterozygous fragment wasn′t found in proband′s DNA.Intron 5′CA45 of proband′s two young sisters(II2, II3) was heterozygous.Conclution Proband′s mother is a carrier with abnormal gene of BMD, proband′s father and mother are consanguineous marriage and passed the pathogenic gene to proband and their two daughters.Therefore their son and two daughters are patients with BMD.
出处
《重庆医学》
CAS
CSCD
2004年第4期563-564,共2页
Chongqing medicine
