✦ LIBER ✦

Identification of four novel RB1 germline mutations in Korean retinoblastoma patients

✍ Scribed by Young Suk Yu; Il-Jin Kim; Ja-Lok Ku; Jae-Gahb Park

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 37 KB
Volume: 18
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1184

No coin nor oath required. For personal study only.

✦ Synopsis

To elucidate RB1 germline mutations in Korean retinoblastoma patients, DNA samples from 14 children with bilateral (including three familial cases) and 19 children with u nilateral retinoblastoma were analyzed. We found germline mutations in three out of 14 bilateral cases and one out of 19 unilateral cases. There were no germline mutations in the three familial cases. PCR-SSCP from each exon showed bandshifts in four patients which, upon sequencing, were shown to be K616E in exon 19 (c.1846A>G) , an AA insertion in exon 7 (c.684-685insAA), R500G in exon 16 (c.1498A>G), and an A insertion in exon 23 (c.2391-2392insA), respectively.

📜 SIMILAR VOLUMES

Germline mutations in the RB1 gene in pa

Germline mutations in the RB1 gene in patients with hereditary retinoblastoma

✍ Zaoxia Liu; Yue Song; Britta Bia; John K. Cowell 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 664 KB

We have analyzed the 27 exons and the promoter region of the RBI gene in familial or sporadic bilateral retinoblastoma by using single-strand conformation polymorphism analysis. For improvement over previous studies, a new set of primers has been designed, which allow for amplification of the coding

Spectrum of germline RB1 gene mutations

Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications

✍ Javier Alonso; Purificación García-Miguel; José Abelairas; Marta Mendiola; Enric 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 374 KB 👁 1 views

Mutation analysis of retinoblastoma is considered important for genetic counseling purposes, as well as for understanding the molecular mechanisms leading to tumors with different degrees of penetrance or expressivity. In the course of an analysis of 43 hereditary retinoblastoma Spanish patients and

Identification of 26 new constitutional

Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients

✍ Javier Alonso; Helena Frayle; Ibis Menéndez; Andrés López; Purificación García-M 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 149 KB 👁 1 views

## Communicated by Daniel F. Schorderet Constitutional mutations in the RB1 gene predispose to retinoblastoma development. Hence genetic screening of retinoblastoma patients and relatives is important for genetic counseling purposes. In addition, RB1 gene mutation studies may help decipher the mol

Pathogenic validation of unique germline

Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes

✍ Angelo Gámez-Pozo; Itziar Palacios; Milica Kontic; Ibis Menéndez; Isabel Camino; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 323 KB 👁 1 views

Precise identification of the pathogenic character of germline mutations in the retinoblastoma gene (RB1) is fundamental to provide genetic counselling to patients at risk of developing retinoblastoma. In contrast to bona fide oncogenic RB1 mutations like nonsense or frameshift mutations, and those

Germline mutations of the dpc4 gene in K

Germline mutations of the dpc4 gene in Korean juvenile polyposis patients

✍ Il-Jin Kim; Ja-Lok Ku; Kyong-Ah Yoon; Seung Chul Heo; Seung-Yong Jeong; Hyo Seon 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 French ⚖ 85 KB 👁 2 views

Juvenile polyposis is an uncommon condition characterized by the development of multiple (usually more than 5) juvenile polyps in the gastrointestinal tract, especially in the colon. This disease usually occurs during childhood, and is inherited in an autosomal dominant fashion. It has been suggeste

Novel RB1 gene constitutional mutations

Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma

✍ Anna Jakubowska; Stanislaw Zajaczek; Olga Haus; Janusz Limon; Ewa Kostyk; Zofia 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB 👁 1 views

Retinoblastoma is the most common intraocular malignancy in children. It is estimated that 60 percent of cases are nonhereditary and unilateral, 15% are hereditary and unilateral, and 25 percent are hereditary and bilateral. Hereditary predisposition for retinoblastoma is caused by germline mutation