[Blood group antigens and ABH secretor status in dystrophia myotonica (Curschmann-Steinert)].
The linkage between the dominantly inherited Dystrophia myotonica and ABH-Secretor locus is well known. It has been used as a genetic marker for the early detection of heterozygous patients. Genetic counselling, however, requires exact knowledge of the gene combination. 25 persons from a special ambulance, patients and their advice seeking relatives, were examined for ABH, Lewis, Kidd, and Lutheran blood groups. Secretor test was performed from saliva. In 42% of the patients the combination of Dystrophia myotonica to the (Se) or (se) allele could not be exactly determined, nor in any of their relatives because the number of family members available for analysis was insufficient. Therefore this genetic marker is considered to be of limited practical importance for genetic counselling despite of its high theoretical value. The occurrence of lewis-b-antigen in the saliva of 3 nonsecretor patients cannot be explained yet.
D000017:ABO Blood-Group System / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007983:Lewis Blood Group Antigens / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000235:genetics*
D000017:ABO Blood-Group System; D007983:Lewis Blood Group Antigens
Blutgruppenantigene und ABH-Sekretorstatus bei Dystrophia myotonica (Curschmann-Steinert).