Literature DB >> 2932368

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

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

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.

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Year:  1985        PMID: 2932368

Source DB:  PubMed          Journal:  Genetika        ISSN: 0016-6758


  2 in total

1.  Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic.

Authors:  Rena A Zinchenko; Vitaly V Kadyshev; Galina I El'chinova; Andrey V Marakhonov; Varvara A Galkina; Elena L Dadali; Olga V Khlebnikova; Lyudmila K Mikhailova; Nika V Petrova; Nina E Petrina; Tatyana A Vasilyeva; Polina Gundorova; Alexander S Tanas; Vladimir V Strelnikov; Alexander V Polyakov; Eugeny K Ginter
Journal:  Int J Mol Epidemiol Genet       Date:  2018-08-20

2.  Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia.

Authors:  Ali Al Kaissi; Sebastian Farr; Rudolf Ganger; Jochen G Hofstaetter; Klaus Klaushofer; Franz Grill
Journal:  Open Orthop J       Date:  2013-02-08
  2 in total

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