【摘要】 <正> Duchenne型肌营养不良症(Muscular dystrophy)也名进行性肌营养不良症,简称DMD,是肌营养不良症中最多见而严重的一种遗传病。患者一旦起病,症状日益加剧,肌组织蛋白变性萎缩,逐渐失去活动能力,大多在20岁左右死亡。现今,临床医学中遗传病的产前诊断和杂合子检出技术正在迅速地开展,因此从遗传学的角度研究此病的传递方更多还原

【Abstract】 Genetics of Duchenne-type muscular dystrophy (DMD)had been studied in six families with 12 sufferers confirmed by clinical features during 1953~1978 at Su Zhou district, Jiangsu Province of the People’s Republic of China. Pedigree analyses illustrated that this type of disease might be X-linked recessive inheritance, It was suggested that among the 12 sufferers 9 of them (75%) might receive DMD gene from their mother carriers, while the rest (25%) were likely to be caused by neo-mutation. The oldest was 18 years old at that time. During the past 26 years 191741 babies were born alive and the sex ratio of male birth was 0.51. DMD incidence of 12.3±2.5×10-5 was first calculated in the population of China. According to the indirect method made by Haldane, mutation rate of DMD gene was also estimated at 4.1×10-5 mutation per gene per generation. Temptation was taken to compare the incidence and mutation rate in our country with those in other countries. There was no significant difference between them. As the extent and application of antenatal diagnosis and heterozygote detection methods, the importance of having a good knowledge of the incidence and mutation rate of this genetic disease in assessing "medical load" was discussed.In addition, peripheral blood lymphocytes of DMD cases were cultured in vitro and two of them were karyotypically analysed on metaphase preparations with Giemsa banding technique. As this is a preliminary study, it is hardly to answer if there is constant and gross relationship between the chromosomal segment and some phenotype.Finally, problems related to the carrier detection and prenatal prevention of DMD were discussed.更多还原