Analysis of P gene variations among fourteen patients with oculocutaneous albinism type Ⅱ
10.3760/cma.j.issn.1003-9406.2019.12.003
- VernacularTitle: 14例眼皮肤白化病Ⅱ型患者P基因变异分析
- Author:
Jianqiang TAN
1
;
Lizhen PAN
;
Jun HUANG
;
Wugao LI
;
Zhetao LI
;
Rongni CHANG
;
Jingwen LI
;
Tizhen YAN
;
Jiwei HUANG
;
Dejian YUAN
;
Ren CAI
Author Information
1. Department of Medical Genetics, Liuzhou Maternal and Child Health Care Hospital, Liuzhou, Guangxi 545001, China
- Publication Type:Journal Article
- Keywords:
Albinism;
Oculocutaneous albinism type Ⅱ;
P gene;
Gene variation
- From:
Chinese Journal of Medical Genetics
2019;36(12):1163-1166
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze variations of TYR and P genes among 14 patients with clinically diagnosed oculocutaneous albinism.
Methods:Potential variations of the TYR and P genes were detected by Sanger sequencing. Novel variations were predicted with bioinformatics software including SIFT and PolyPhen-2.
Results:No variation was found in the TYR gene, while 9 types of variations were found in the P gene among the 14 patients, which included c. 803-3C>G (7/26), c. 1327G>A (p.Val443Ile) (5/26), c. 632C>T (p.Pro211Leu) (4/26), c. 1832T>C (p.Leu611Pro) (3/26), c. 1349C>A (p.Thr450Lys) (2/26), c. 2363C>T (p.Ser788Leu) (2/26), c. 2228C>T (p.Pro743Leu) (1/26), c. 1525A>G(p.Thr509Ala) (1/26), and c. 1349C>T(p.Thr450Met) (1/26). Only 1 heterozygous variation was detected in 2 families. c. 2363C>T (p.Ser788Leu), c. 1832T>C (p.Leu611Pro) and c. 1525A>G (p.Thr509Ala) were not reported previously and predicted as "harmful" to the protein function.
Conclusion:The main type of ocular albinism is oculocutaneous albinism type Ⅱ in Liuzhou region, where the most common variations of the P gene were c. 803-3C>G and c. 1327G>A (p.Val443Ile). Above finding has enriched the variation spectrum of the P gene.
