Blutgruppenantigene und ABH-Sekretorstatus bei Dystrophia myotonica (Curschmann-Steinert)

Abstract 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 counseling, however, requires exact knowledge of the gene combination. 25 persons from a spe...

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Veröffentlicht in:Klinische Pädiatrie 1986-07, Vol.198 (4), p.312-315
Hauptverfasser: Mielke, U., Gramer, L., Schimrigk, K.
Format: Artikel
Sprache:ger
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Zusammenfassung:Abstract 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 counseling, 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 counseling despite of its high theoretical value. The occurrence of lewis-b-antigen in the saliva of 3 nonsecretor patients cannot be explained yet.
ISSN:0300-8630
1439-3824
DOI:10.1055/s-2008-1033878