Title: Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis.
Authors: Seo, SH; Ahn, HS; Yu, YS; Kang, HJ; Park, KD; Cho, SI; Park, JS; Hyun, YJ; Kim, JY; Seong, M‐W; Park, SS
Abstract: The article presents a study of mutation spectrum of RB1 gene in South Korean patients with retinoblastoma, the most common form of childhood intraocular tumor. It involved extracting of DNA from peripheral blood leukocytes and screening of RB1 gene mutations through sequence analysis of exons using an ABI 3730 analyzer and multiple ligation probe-dependent amplification (MLPA) method. The study reveals high detection of germline mutations with sporadic bilateral retinoblastoma.
Subjects: SOUTH Korea; RETINOBLASTOMA; LEUKOCYTES; GENETIC mutation; GENETIC testing; GERM cell tumors; DNA probes; GENETICS
Publication: Clinical Genetics, 2013, Vol 83, Issue 5, p494
ISSN: 0009-9163
Publication type: Academic Journal
DOI: 10.1111/j.1399-0004.2012.01954.x

Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis.

Seo, SH; Ahn, HS; Yu, YS; Kang, HJ; Park, KD; Cho, SI; Park, JS; Hyun, YJ; Kim, JY; Seong, M‐W; Park, SS