D'Onofrio F, Passariello N, Sepe J, Gentile S, Cacciapuoti F, Stabile M, Pace E, Del Covillo G, Vacca C, Ventruto V
Istituto di Medicina Generale, Università Napoli 1o, Facoltà di Medicina e Chirurgia, Italy.
Eur J Med. 1993 Apr;2(4):227-31.
To confirm recent reports on the incidence of human lymphocyte antigens (HLA) in familial hypertrophic cardiomyopathy and to better define the genetic patterns found in these patients.
A large family (31 members, 18M, 13F, age range 6-80 years) with a high incidence of hypertrophic cardiomyopathy was screened for HLA, dermatoglyphic patterns and blood subtyping.
Our finding show variable expression of the disease and reduced penetrance. No linkage between the disease-causing gene and HLA loci could be demonstrated in the family. There was no specific haplotype which present in all affected individuals and missing in all controls. Haplotype A2 B18 was the most commonly encountered in affected individuals but was absent in IV 3 and present in a few controls. No linkage was found between the disease-responsible gene and the blood groups. Finally, no typical pattern emerged from the dermatoglyphic studies.
The genetic assessment of this family, in agreement with other European studies, showed no clear correlation between hypertrophic cardiomyopathy and blood groups ABO, Rh, Lewis, Duffy and was unable to show atypical or unusual dermatoglyphic patterns.
证实近期有关家族性肥厚型心肌病中人类淋巴细胞抗原（HLA）发生率的报道，并更好地界定这些患者中发现的遗传模式。
对一个肥厚型心肌病发病率高的大家庭（31名成员，18名男性，13名女性，年龄范围6 - 80岁）进行HLA、皮纹模式和血型分型筛查。
我们的研究结果显示该疾病存在可变表达且外显率降低。在这个家族中未发现致病基因与HLA位点之间存在连锁关系。没有一种特定的单倍型在所有受影响个体中都存在而在所有对照中都缺失。单倍型A2 B18在受影响个体中最常出现，但在IV 3中不存在且在一些对照中存在。未发现致病基因与血型之间存在连锁关系。最后，皮纹研究未出现典型模式。
与其他欧洲研究一致，对这个家族的基因评估表明，肥厚型心肌病与ABO、Rh、Lewis、Duffy血型之间没有明显相关性，并且未能显示出非典型或异常的皮纹模式。
