Aihua Wei

Publications (3)13.74 Total impact

• Article: Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.

  Aihua Wei, Xiumin Yang, Shi Lian, Wei Li
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  ABSTRACT: Oculocutaneous albinism (OCA) is a relatively common inherited disorder in all populations worldwide. The mutational spectra of OCA are population-specific. Based on our previous molecular epidemiological studies, we have implemented an optimized strategy for the genetic testing of Chinese OCA patients. 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. 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. The optimized method to screen the OCA mutations is efficiently implemented in the routine genetic testing of Chinese OCA patients accompanied with genetic counseling.
  Journal of dermatological science 03/2011; 62(2):124-7. · 3.71 Impact Factor
• Source

  Available from: ccmu.edu.cn

  Article: A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

  Aihua Wei, Yu Wang, Yan Long, Yi Wang, Xiaoli Guo, Zhiyong Zhou, Wei Zhu, Juntao Liu, Xuming Bian, Shi Lian, Wei Li
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  ABSTRACT: 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.
  Journal of Investigative Dermatology 10/2009; 130(3):716-24. · 6.31 Impact Factor
• Article: The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.

  Aihua Wei, Shi Lian, Lejin Wang, Wei Li
  Journal of dermatological science 09/2009; 56(2):130-2. · 3.71 Impact Factor