Abstract
From the results of pedigree analysis and carrier detection tests in Duchenne dystrophy, we thought, in the probable and definite families, maternal side was much predominant in this heredity, but paternal side was also concerned in this inheritant mode considerably. In possible families, total numbers of abnormalities out of 8 determinants in our carrier detection tests were almost equal fathers to mothers. That's the reason why we considered the paternal side shouldn't be ignored for carrier state and genetic counselling.
Our carrier detection test is based on the specific abnormalities for Duchenne dystrophy, such as deep Q and tall RV1 in EKG findings and a panel of enzyms including CPK, ALD, LDH, ALP, GOT, GPT etc. From the test results of total 150 examples of parents and siblings of probands, we confirmed there existed considerable difference between definite, probable families and possible families. In each family group the average birth rate of affected sons among total boy's births was calculated.
We also demonstrated the 100% birth rate of affected sons to the boy's birth on family basis. The families with over 2 abnormal values in both father and mother were considered to be the most clustering in this inheritance showing the high rate of 72.7% and followed to the families of only mother having more than 2 abnormalities its 100% birth rate being 71.4% and the families of only father showing over 2 abnormalities having its rate of 43% and lastly, father and/or mother showing 1 abnormal value being the rate of 34.4%.
We supposed these 100% birth rate of affected son is the most meaningful calculation for presuming the risk of Duchenne dystrophy on each family basis.
