Literature DB >> 7917429

[Study on genetic epidemiology of albinism].

Y Gong1, C Shao, H Zheng, B Chen, Y Guo.   

Abstract

Segregation analysis and consanguinity analysis were applied to 37 albinism families ascertained from Shandong province (P. R. China) to study the genetic heterogeneity of the disease. Our results show that albinism is an autosomal recessive disease with multilocus. The least number of the detrimental loci is 8, The average frequence of detrimental genes is 0.0023, and 3.83% individuals in general population are carriers. The incidence among the offsprings of the first cousin marriages would be 22 times higher than that in the general population.

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Year:  1994        PMID: 7917429

Source DB:  PubMed          Journal:  Yi Chuan Xue Bao        ISSN: 0379-4172


  4 in total

Review 1.  Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.

Authors:  Emily Z Ma; Albert E Zhou; Karl M Hoegler; Amor Khachemoune
Journal:  Arch Dermatol Res       Date:  2022-02-25       Impact factor: 3.017

2.  Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Authors:  Zilin Zhong; Li Gu; Xiujie Zheng; Nengjun Ma; Zehua Wu; Juan Duan; Jun Zhang; Jianjun Chen
Journal:  Pigment Cell Melanoma Res       Date:  2019-05-29       Impact factor: 4.693

3.  Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.

Authors:  Zilin Zhong; Zheng Zhou; Jianjun Chen; Jun Zhang
Journal:  Front Genet       Date:  2022-07-12       Impact factor: 4.772

4.  Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

Authors:  Yun Wang; Zhi Wang; Mengping Chen; Ning Fan; Jie Yang; Lu Liu; Ying Wang; Xuyang Liu
Journal:  PLoS One       Date:  2015-04-28       Impact factor: 3.240

  4 in total

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