Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism

Abstract Background Oculocutaneous albinism (OCA) is a relatively common inherited disorder in all populations worldwide. The mutational spectra of OCA are population-specific. Objective Based on our previous molecular epidemiological studies, we have implemented an optimized strategy for the geneti...

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Bibliographic Details
Published in:Journal of dermatological science 2011-05, Vol.62 (2), p.124-127
Main Authors: Wei, Aihua, Yang, Xiumin, Lian, Shi, Li, Wei
Format: Article
Language:English
Subjects:
Adolescent
Adult
Albinism, Oculocutaneous - genetics
Alleles
Child
Child, Preschool
China
Dermatology
DNA Mutational Analysis - methods
Female
Genetic testing
Genetic Testing - methods
Hermansky-Pudlak syndrome
Humans
Infant
Infant, Newborn
Male
Mutation
Oculocutaneous albinism
Polymorphism, Genetic
Previously unidentified allele
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Summary:Abstract Background Oculocutaneous albinism (OCA) is a relatively common inherited disorder in all populations worldwide. The mutational spectra of OCA are population-specific. Objective Based on our previous molecular epidemiological studies, we have implemented an optimized strategy for the genetic testing of Chinese OCA patients. Methods Genomic DNA was extracted from the blood samples of 52 clinically diagnosed OCA patients and 100 unaffected subjects. The amplified DNA segments were screened for mutations of TYR , OCA2 , TYRP1 , SLC45A2 and HPS1 by direct sequencing. To exclude the previously unidentified alleles (PUAs) from polymorphisms, samples from 100 unaffected controls were sequenced for the same regions of variations. Results Among the 52 OCA patients, 26 (50.0%) were found mutations on TYR gene, 8 (15.4%) on OCA2 , 12 (23.1%) on SLC45A2 , 2 (3.8%) on HPS1 , and 4 (7.7%) patients uncharacterized. We identified 18 PUAs in these patients, 2 in TYR , 7 in OCA2 , 8 in SLC45A2 , and 1 in HPS1. Conclusion The optimized method to screen the OCA mutations is efficiently implemented in the routine genetic testing of Chinese OCA patients accompanied with genetic counseling.
ISSN:0923-1811
1873-569X
DOI:10.1016/j.jdermsci.2011.02.009