László A, Kósa F, Zimányi I, Egyed A
Acta Paediatr Hung. 1985;26(2):87-96.
The erythrocyte enzyme-systems acid phosphatase, phosphoglucomutase, glutamate pyruvate transaminase, adenosine desaminase, adenylate kinase, glyoxase, glucose-6-phosphate dehydrogenase and esterase-D-isoenzyme phenotypes were studied for their percentile distribution and were compared with their incidence in the diseases with X-linked recessive heredity, Duchenne muscular dystrophy (DMD) and haemophilia-A, in hemizygous male children and heterozygous mothers. Considering the frequency distribution of the above mentioned isoenzyme phenotypes of the enzyme-systems in DMD, the phenotypes proved to be homogeneous, only the X transmitted 6-phosphogluconate dehydrogenase (6-PGD) isoenzyme types were found to be genetic markers in DMD hemizygotes and heterozygotes. In these genotypes the 6-PGD A phenotype showed a decrease while the phenotypes 6-PGD AB and B were significantly increased. The adenylate kinase (AK) 2-1 isoenzyme phenotype was increased to 25% against the population frequency of 6.34%, while the AK 1-1 phenotype occurred in 75% against its population frequency of 93.59%, showing a significantly decreasing tendency in haemophilia-A hemizygotes and heterozygotes.
研究了红细胞酶系统酸性磷酸酶、磷酸葡萄糖变位酶、谷丙转氨酶、腺苷脱氨酶、腺苷酸激酶、乙二醛酶、葡萄糖-6-磷酸脱氢酶和酯酶-D同工酶表型的百分位数分布，并将其与X连锁隐性遗传疾病杜氏肌营养不良症（DMD）和血友病A中半合子男性儿童及杂合子母亲的发病率进行比较。考虑到上述酶系统同工酶表型在DMD中的频率分布，这些表型被证明是同质的，仅发现X连锁的6-磷酸葡萄糖酸脱氢酶（6-PGD）同工酶类型是DMD半合子和杂合子中的遗传标记。在这些基因型中，6-PGD A表型减少，而6-PGD AB和B表型显著增加。腺苷酸激酶（AK）2-1同工酶表型在人群频率为6.34%的情况下增加到了25%，而AK 1-1表型在人群频率为93.59%的情况下出现频率为75%，在血友病A半合子和杂合子中呈显著下降趋势。
