Brautbar C, Theodor R, Sack J, Levene C, Dupont B, Levine L S, Sharon R, Smaller S, Cohen T, Rösler A
Tissue Antigens. 1981 Feb;17(2):212-6. doi: 10.1111/j.1399-0039.1981.tb00685.x.
HLA phenotypes were studied in nine Jewish families, originating from Iran, with 18 individuals affected with a selective aldosterone biosynthetic defect and 12 healthy siblings. This disorder is inherited through an autosomal recessive gene and parents were consanguineously related in eight out of nine sibships. Family analysis showed that 18 affected individuals carried 20 different haplotypes and only two patients were homozygous for a haplotype. Yet a peak lod score of 1.128 was obtained for the recombinant fraction of 0.05 and thus linkage to HLA cannot be ruled out.
对来自伊朗的九个犹太家庭进行了HLA表型研究,其中18名个体患有选择性醛固酮生物合成缺陷,12名是健康的兄弟姐妹。这种疾病通过常染色体隐性基因遗传,在九个同胞组中有八个的父母是近亲关系。家系分析显示,18名患病个体携带20种不同的单倍型,只有两名患者的单倍型是纯合的。然而,重组率为0.05时获得的最高lod分数为1.128,因此不能排除与HLA的连锁关系。