眼皮肤白化病1家系基因诊断及产前诊断

doi:10.35541/cjd.20210662

Chinese Journal of Dermatology ›› 2024, Vol. 57 ›› Issue (9): 842-843.doi: 10.35541/cjd.20210662

• Case Reports • Previous Articles Next Articles

Variation analysis and prenatal diagnosis in a pedigree with oculocutaneous albinism

Lu Qing, Liu Yanqiu, Liu Danping, Zou Yongyi, Yang Bicheng

Medical Genetic Center, Jiangxi Maternal and Child Health Hospital, Nanchang 330006, China

Received:2021-09-10 Revised:2022-11-29 Online:2024-09-15 Published:2024-09-04
Contact: Liu Yanqiu E-mail:lyq0914@126.com
Supported by:
Medical Leading Discipline and Birth Defect Prevention and Control Key Laboratory Construction Project of Jiangxi Province （20202BCD42017）; Natural Science Foundation of Jiangxi Province （20224BAB206037）

Abstract

Lu Qing, Liu Yanqiu, Liu Danping, Zou Yongyi, Yang Bicheng. Variation analysis and prenatal diagnosis in a pedigree with oculocutaneous albinism[J]. Chinese Journal of Dermatology, 2024, 57(9): 842-843.doi:10.35541/cjd.20210662

［1］	Grønskov K, Ek J, Brondum⁃Nielsen K. Oculocutaneous albinism［J］. Orphanet J Rare Dis, 2007,2:43. doi: 10.1186/1750⁃1172⁃2⁃43.
［2］	胡苏玮, 何晓燕, 李洁, 等. 眼皮肤白化病一家系基因突变分析［J］. 中华皮肤科杂志, 2017,50（12）:909⁃911. doi: 10.3760/cma.j.issn.0412⁃4030.2017.12.011.
［3］	Kamaraj B, Purohit R. Mutational analysis of oculocutaneous albinism: a compact review［J］. Biomed Res Int, 2014,2014:905472. doi: 10.1155/2014/905472.
［4］	Brilliant MH. The mouse p （pink⁃eyed dilution） and human P genes, oculocutaneous albinism type 2 （OCA2）, and melanosomal pH［J］. Pigment Cell Res, 2001,14（2）:86⁃93. doi: 10.1034/j.1600⁃0749.2001.140203.x.

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Variation analysis and prenatal diagnosis in a pedigree with oculocutaneous albinism

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