Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan

Tsai, Chang‐Hai; Tsai, Fuu‐Jen; Wu, Jer‐Yuarn; Lin, Shuan-Pei; Chang, J G; Yang, Chih-Chiang; Lee, Cheng-Chun

doi:10.1002/(sici)1098-1004(199912)14:6<542::aid-humu14>3.0.co;2-3

Cited by 18 publications

(25 citation statements)

References 7 publications

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“…Both the c.929insC and p.R278X alleles in TYR have been reported in some Asian populations (Tripathi et al, 1993;Park et al, 1997;Tomita, 2000;Chaki et al, 2005a). Several mutations of TYR with higher allelic frequencies, such as p.W400L (Lin et al, 2006), c.232insGGG (Tsai et al, 1999), and p.C24Y (Wang et al, 2009a), have to date been reported only in Chinese OCA patients. Another mutation, p.D160H, is the most common allele of SLC45A2 in Chinese OCA4 patients.…”

Section: Discussionmentioning

confidence: 99%

A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism

Wei

Wang

Long

et al. 2010

Journal of Investigative Dermatology

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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.

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Section: Discussionmentioning

confidence: 99%

A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism

Wei

Wang

Long

et al. 2010

Journal of Investigative Dermatology

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“…PCR revealed that the fetus had two mutations on exon 2: a missense mutation (Arg 299His, R299H, CGT>CAT) (Tripathi et al, 1992) and a deletion mutation (862delTT, 861±862delTT, CAGTCTTTATG) (Tsai et al, 1999) (Figure 1B). To obtain detailed information about the inherence, DNA surveys of both parents were performed.…”

Section: Resultsmentioning

confidence: 99%

“…Mutations had previously been identi®ed in 87.5% of Taiwan Chinese children with OCA1 (Tsai et al, 1999). However, no reports of two mutations in the same allele have been published.…”

Section: Discussionmentioning

confidence: 99%

“…Amniocentesis was performed for the present pregnancy, together with PCR as detailed in a previous report (Tsai et al, 1999). Exon 1±5 of tyrosinase were ampli®ed and analyzed by singlestrand conformation polymorphism (SSCP) and direct sequencing (Tsai et al, 1999).…”

Section: Patient and Methodsmentioning

confidence: 99%

“…Exon 1±5 of tyrosinase were ampli®ed and analyzed by singlestrand conformation polymorphism (SSCP) and direct sequencing (Tsai et al, 1999).…”

Section: Patient and Methodsmentioning

confidence: 99%

See 2 more Smart Citations

Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele

Hsieh

Chang

et al. 2001

Prenat. Diagn.

Self Cite

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Determination of variants in the 3′-region of the Tyrosinase gene requires locus specific amplification

2005

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Mutations in the Tyrosinase gene (TYR, 11q14-q21) cause oculocutaneous albinism type 1 (OCA1). The 3'-region of the TYR shows 98.55% sequence identity with a pseudogene, known as Tyrosinase-Like Gene (TYRL, 11p11.2-cen). A large number of publicly available nucleotide variants of TYR in this region are same as the bases present in the identical locations in the pseudogene. PCR amplification of these regions using primers with sequences common to both loci may result in coamplification of TYR and TYRL, and may lead to misinterpretation of the results. We have resolved this potential problem using locus-specific amplification conditions that could be used to identify unequivocally mutations and SNPs in exon 4 and exon 5 of TYR and proximal flanking sequences.

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Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan

Cited by 18 publications

References 7 publications

A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism

A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism

Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele

Determination of variants in the 3′-region of the Tyrosinase gene requires locus specific amplification

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