假性肥大型肌营养不良遗传分析及携带者检出的研究

调查分析了36个假性肥大型肌营养不良患者家系,发现患者60例,有家族史的12个家系,家系分析符合X连锁隐性遗传。检测了健康男女199人的血清CPK及Mb浓度,建立了本室CPK正常值,男:85IU,女:月经初潮前80IU,月经初潮后60IU。Mb正常值男:90ng/ml,女:月经初潮前50ng/ml,月经期45ng/ml,停经以后55ng/ml。携带者检出:Mb特异性强,可测定出CPK正常的个体,CPK的检出率高,故二者同时测定,可提高携带者检出率,这有助于防止DMD患儿的出生及降低DMD的发病率。

THE GENETIC ANALYSIS IN PSEUDOHYPERTROPHIC MUSCULAR DYSTROPHY AND DETECTION OF CARRIERS

Thirty-six families of DMD, 60 affected individuals (58 males, 2 females) were investigated.There are more than one patient in 12 families. Serum creatine phosphokinase(CPK) and myoglobin (Mb) were determined in 103 healthy women and 96 healthy men.The normal value of CPK and Mb in serum was proposed. CPK normal value'85 IU in man; 80 IU in premenarchal girls; 60 IU in postmenarchal women. Mb normal value:90ng/ml in men, 50ng/ml in premenarehal girls, 45ng/ml in menstruation period, 55ng/ml in postmenarchal women. The serum CPK was determined in 41 DMD affected, in 38 of them the CPK is abnormal, the detection rate is 92.68%. The serum CPK was determined in 17 definite carriers, in 8 of them the CPK is abnormal, the detection rate is 47.06%; 2 probable carriers, in all of them the CPK is abnormal; 81 possible carriers, in 22 of them the CPK is abnormal, detection rate is 27.17%. The serum Mb was determined in 39 DMD affected, in 35 of them the Mb is abnormal, detection rate is 92.31%, 17 definite carriers, in 3 of them the Mb is abnormal, detection rate is 17.65%; 2 probable carriers, in 1 of them the Mb is abnormal; 81 possible carriers, in 13 of them the Mb is abnormal, detection rate is 16.05%. If the carrier probability based on biochemical tests were combined with the carrier probability determined from analysis of pedigree, Affected birth can be reduced and this disease provented.