A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.
BACKGROUND
Oculocutaneous albinism (OCA) is a congenital genetic disorder characterized by defects in melanin production. OCA type 1 (OCA1) is the most serious and common type of OCA. This study characterized mutations associated with OCA1 in a series of Chinese patients.


METHODS
We recruited 41 unrelated patients with OCA and 100 healthy subjects from the Chinese Han population. Genomic DNA was extracted from their blood samples. Mutational analysis of tyrosinase (TYR) genes was conducted using polymerase chain reaction (PCR) and direct sequencing, specifically to test the 100 control subjects and exclude the possibility of polymorphism. Mutational analysis and bioinformatics study were performed in TYR mutations.


RESULTS
Among the 24 (58.5%) patients with OCA1, 21 different TYR mutations were identified, including three previously unidentified alleles (PUAs): one frameshift mutation (c.216delA) and two missense mutations (A241T and N364K). The proband mutation A241T carries three possible mutations in complex OCA.


CONCLUSIONS
The findings of this study expand current knowledge and data of mutations associated with OCA1 in China and allow us to estimate or explore the mutation spectrum and relative frequencies of the TYR gene in the Chinese population.
Department of Dermatology, Xuan Wu Hospital, Capital Medical University, 45 Changchun St, Xuanwu District, Beijing 100053, China.
Yu-Ying
YY
Lin
Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.
Ai-Hua
AH
Wei
Key Laboratory of Molecular and Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China.
Xin
X
He
Key Laboratory of Molecular and Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China.
Zhi-Yong
ZY
Zhou
Department of Dermatology, Xuan Wu Hospital, Capital Medical University, 45 Changchun St, Xuanwu District, Beijing 100053, China.
Shi
S
Lian
Department of Dermatology, Xuan Wu Hospital, Capital Medical University, 45 Changchun St, Xuanwu District, Beijing 100053, China.
Wei
W
Zhu
D000328:Adult; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D055815:Young Adult
D014442:Monophenol Monooxygenase
TYR; albinism; mutation; mutation analysis; oculocutaneous albinism; tyrosinase