A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
Oculocutaneous albinism (OCA) is a heterogeneous recessive disorder with hypopigmentation in the skin, hair, and eyes. At least 16 genes have been identified as causative genes for human OCA. No comprehensive analysis has been conducted to study the spectral distribution of OCA in Chinese patients. We screened 127 unrelated and unselected Chinese OCA patients for mutations in the TYR, OCA2, TYRP1, SLC45A2, and HPS1 genes. We found that the spectrum of mutational genes and alleles of OCA is population specific. OCA1 is the most common (70.1% of cases) form of Chinese OCA, whereas OCA2, OCA4, and HPS1 account for 10.2%, 12.6%, and 1.6%, respectively. No apparent pathological mutation of TYRP1 has been found. Thirty-eight previously unreported mutational alleles were identified from these OCA patients and were not found in 100 nonalbinism subjects. Of the TYR mutational alleles, 81.1% were clustered on exons 1 and 2. Ten common alleles account for 74.6% of the mutational TYR alleles in Chinese OCA1 patients. The p.D160H allele accounts for 55.6% of the mutational SLC45A2 alleles in Chinese OCA4 patients. These results provide useful information for the establishment of an optimized strategy of gene diagnosis and genetic counseling of Chinese OCA patients.
Wei
Aihua
A
Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Department of Dermatology, Xuan Wu Hospital, Capital Medical University, Beijing, China.
Wang
Yu
Y
Long
Yan
Y
Wang
Yi
Y
Guo
Xiaoli
X
Zhou
Zhiyong
Z
Zhu
Wei
W
Liu
Juntao
J
Bian
Xuming
X
Lian
Shi
S
Li
Wei
W
D016115:Albinism, Oculocutaneous / Q000208:ethnology* / Q000235:genetics*; D000483:Alleles; D000951:Antigens, Neoplasm / Q000235:genetics; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data*; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D005820:Genetic Testing; D022861:Hermanski-Pudlak Syndrome / Q000208:ethnology / Q000235:genetics; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D026901:Membrane Transport Proteins / Q000235:genetics; D014442:Monophenol Monooxygenase / Q000235:genetics; D010088:Oxidoreductases / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence
D000951:Antigens, Neoplasm; C102160:HPS1 protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; C510061:SLC45A2 protein, human; D010088:Oxidoreductases; C489799:TYRP1 protein, human; D014442:Monophenol Monooxygenase