✦ LIBER ✦

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

✍ Scribed by Chang-Hai Tsai; Fuu-Jen Tsai; Jer-Yuarn Wu; Shuan-Pei Lin; Jang-Gowth Chang; Chi-Fan Yang; Cheng-Chun Lee

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 16 KB
Volume: 14
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(199912)14:6<542::aid-humu14>3.0.co;2-3

No coin nor oath required. For personal study only.

✦ Synopsis

Type I oculocutaneous albinism (OCA1) is an autosomal recessive disorder, which is caused by the reduction or the absence of tyrosinase activity in melanocytes of the skin, hair and eyes. Although tyrosinase mutations of OCA1 have been extensively analyzed in most populations worldwide, there is no systemic study of OCA1 mutation in Chinese patients. By use of single strand conformation polymorphism and direct sequencing, we had detected 21 mutant alleles out of 24 OCA1 chromosomes screened (87.5%). Detected mutant alleles include one splicing site, three insertion/deletion and five missense mutations, of which the splicing site nucleotide alteration (IVS 1-3C>G) and two each of the insertion/deletion (232-233 ins GGG and 861-862 del TT) and missense mutations (Cys 289 Gly and Trp 400 Leu) are novel. The ins/del mutations accounts for about 37.5% in Chinese OCA1 alleles. The 232-233 ins GGG, one of the novel mutations, was found to be most frequent (25%) among the OCA1 alleles in Chinese. Through this study, we found that while some of the OCA mutant alleles were identified in other populations, ethnic difference still exists.

📜 SIMILAR VOLUMES

Novel mutations of the tyrosinase (TYR)

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)

✍ Richard A. Spritz; Jangsuk Oh; Kazuyoshi Fukai; Stuart A. Holmes; Lingling Ho; D 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 127 KB 👁 1 views

Frequent mutation in Chinese patients wi

Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: Evidence for a founder effect

✍ Jeng-Jer Shieh; Ching-Yuang Lin 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 152 KB 👁 1 views

Glycogen storage disease type II (GSD II, Pompe's disease), an autosomal recessive inherited disease, is caused by the deficiency of acid a-D-glucosidase, which results in the impaired glycogen degradation in lysosome and causes excess glycogen accumulation in lysosome. In Taiwan, the infantile form

Ehlers-Danlos syndrome type VIIA and VII

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

✍ Byers, Peter H.; Duvic, Madeleine; Atkinson, Mary; Robinow, Meinhard; Smith, Lyn 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB 👁 1 views

Ehlers-Danlos syndrome (EDS) type VII results from defects in the conversion of type I procollagen to collagen as a consequence of mutations in the substrate that alter the protease cleavage site (EDS type VIIA and VIIB) or in the protease itself (EDS type VIIC). We identified seven additional famil