Mielke U, Gramer L, Schimrigk K
Klin Padiatr. 1986 Jul-Aug;198(4):312-5. doi: 10.1055/s-2008-1033878.
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.
显性遗传的强直性肌营养不良症与ABH分泌型位点之间的联系是众所周知的。它已被用作早期检测杂合子患者的遗传标记。然而，遗传咨询需要确切了解基因组合情况。对来自一辆特殊救护车的25人进行了检查，包括患者及其寻求建议的亲属，检测了他们的ABH、Lewis、Kidd和Lutheran血型。通过唾液进行分泌型检测。在42%的患者中，无法准确确定强直性肌营养不良症与（Se）或（se）等位基因的组合情况，其亲属中也无法确定，因为可供分析的家庭成员数量不足。因此，尽管该遗传标记具有很高的理论价值，但对于遗传咨询而言，其实际重要性被认为是有限的。3名非分泌型患者唾液中出现lewis-b抗原的情况目前尚无法解释。
