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科斯特罗马省人口的医学遗传学研究。二。该省5个地区遗传性病理学的多样性

[Medical genetics study of the population of Kostroma Province. II. The diversity of hereditary pathology in 5 districts of the province].

作者信息

Ginter E K, Revazov A A, Talanov M I, Nechvolodova O L, Khlebnikova O V

出版信息

Genetika. 1985 Aug;21(8):1372-9.

PMID:2932368
Abstract

The diversity of hereditary pathology in 5 regions of Kostroma district was studied. 32 nosological forms of autosomal dominant, 30 autosomal recessive and 7 X-linked recessive disorders were found. The most frequent autosomal dominant disorders were: neurofibromatosis, pigmentary degeneration of retina, hypochondroplasia, ichtiosis, idiopathic scoliosis. The most frequent among the autosomal recessive disorders were: oligophrenia, pigmentary degeneration of retina, muscular atrophy of juvenile Kugelberg--Welander type, congenital cataract. The most frequent X-linked disorders were: muscular Duchenne type dystrophy and hemophilia A. Analysis of mutant gene distribution over the territory by the study of birthplaces of probands and their parents was carried out.

摘要

对科斯特罗马地区5个区域的遗传性病理多样性进行了研究。发现了32种常染色体显性、30种常染色体隐性和7种X连锁隐性疾病的病种。最常见的常染色体显性疾病有:神经纤维瘤病、视网膜色素变性、软骨发育不全、鱼鳞癣、特发性脊柱侧凸。常染色体隐性疾病中最常见的有:智力发育迟缓、视网膜色素变性、少年型库格尔贝格 - 韦兰德型肌肉萎缩、先天性白内障。最常见的X连锁疾病有:杜兴型肌营养不良症和甲型血友病。通过研究先证者及其父母的出生地,对该地区突变基因分布进行了分析。

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