Family line investigation to women with Becker muscular dystrophy

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.