{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T20:14:20Z","timestamp":1778703260370,"version":"3.51.4"},"reference-count":35,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2014,11,12]],"date-time":"2014-11-12T00:00:00Z","timestamp":1415750400000},"content-version":"unspecified","delay-in-days":315,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genet. Res."],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive genetic disorder that affects melanin synthesis. OCA results in reduced or absent pigmentation in the hair, skin and eyes. Type 1 OCA (OCA1) is the result of tyrosinase (<jats:italic>TYR<\/jats:italic>) gene mutations and is a severe disease type. This study investigated <jats:italic>TYR<\/jats:italic> mutations in a Chinese cohort with OCA1. This study included two parts: patient genetic study and prenatal genetic diagnosis. A total of 30 OCA1 patients were subjected to <jats:italic>TYR<\/jats:italic> gene mutation analysis. Ten pedigrees were included for prenatal genetic diagnosis. A total of 100 unrelated healthy Chinese individuals were genotyped for controls. The coding sequence and the intron\/exon junctions of <jats:italic>TYR<\/jats:italic> were analysed by bidirectional DNA sequencing. In this study, 20 mutations were identified, four of which were novel. Of these 30 OCA1 patients, 25 patients were <jats:italic>TYR<\/jats:italic> compound heterozygous; two patients carried homozygous <jats:italic>TYR<\/jats:italic> mutations; and three were heterozygous. Among the ten prenatally genotyped fetuses, three fetuses carried compound heterozygous mutations and seven carried no mutation or only one mutant allele of <jats:italic>TYR<\/jats:italic> and appeared normal at birth. In conclusion, we identified four novel <jats:italic>TYR<\/jats:italic> mutations and showed that molecular-based prenatal screening to detect <jats:italic>TYR<\/jats:italic> mutations in a fetus at risk for OCA1 provided essential information for genetic counselling of couples at risk.<\/jats:p>","DOI":"10.1017\/s0016672314000160","type":"journal-article","created":{"date-parts":[[2014,11,14]],"date-time":"2014-11-14T04:46:15Z","timestamp":1415940375000},"source":"Crossref","is-referenced-by-count":12,"title":["Tyrosinase gene mutations in the Chinese Han population with OCA1"],"prefix":"10.1155","volume":"96","author":[{"given":"NING","family":"LIU","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"XIANG DONG","family":"KONG","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"HUI 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