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银屑病的家系研究。II. HLA基因型的遗传

Family studies in psoriasis. II. Inheritance of HLA genotypes.

作者信息

Pietrzyk J J, Turowski G, Kapińska-Mrówka M

出版信息

Arch Dermatol Res. 1982;273(3-4):295-300. doi: 10.1007/BF00409258.

Abstract

The study of HLA genotypes in psoriatic families attempts to probe into the genetic transmission of disease. A strong association of psoriasis with HLA antigens determined by locus B is well known, but its relationships are still unsolved. A group of 39 families, living in southern Poland and containing 19 affected parents and 52 psoriatic children, was studied. To discriminate between dominant and recessive modes of 'disease' genes inheritance, two tests were used. No significant differences were found between the observed and the expected distributions of genotypes with HLA-B 13 or HLA-B 17. The expected and the observed numbers of affected sib pairs sharing two, one or no HLA haplotypes were compatible with the proportions of 1/4, 1/2 and 1/4 in the case of independent segregation of psoriasis and HLA antigens. The results support the hypothesis of multifactorial determination of disease. The hypothetical inheritance of parental HLA haplotypes carrying 'psoriatic' genes in cis or trans positions was considered. Of nine possible combinations, two were shown graphically that resulted in offspring compatible with the observed pyenotypical expression of disease.

摘要

对银屑病家族中HLA基因型的研究旨在探究疾病的遗传传递。银屑病与由B位点决定的HLA抗原之间存在强关联,这是众所周知的,但它们之间的关系仍未解决。对居住在波兰南部的39个家庭进行了研究,其中包括19名患病父母和52名银屑病患儿。为了区分“疾病”基因遗传的显性和隐性模式,使用了两种测试方法。在HLA - B13或HLA - B17基因型的观察分布与预期分布之间未发现显著差异。在银屑病和HLA抗原独立分离的情况下,共享两个、一个或没有HLA单倍型的患病同胞对的预期数量和观察数量与1/4、1/2和1/4的比例相符。结果支持疾病多因素决定的假说。考虑了携带“银屑病”基因的亲代HLA单倍型在顺式或反式位置的假设遗传。在九种可能的组合中,以图表形式展示了两种组合,其产生的后代与观察到的疾病表型表达相符。

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