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A study of rbl gene in malaysian children with retinoblastoma: association of exon 18 mutation with clinical presentation

Background To date, there is no reports are available on RB I gene mutations in Malaysian children with retinoblastoma. The purpose of this study is to determine the presence of pocket B ElA domain mutations of RBI gene and their clinical presentation in Malaysian children with retinoblastoma (RB...

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Main Author: Tajuddin, Liza Sharmini Ahmad
Format: Article
Language:English
Published: Pusat Pengajian Sains Perubatan, Universiti Sains Malaysia 2011
Subjects:
R Medicine
Online Access:http://eprints.usm.my/50380/1/DR.%20SITI%20RAIHAN%20BINTI%20%20ISHAK-24%20pages.pdf
http://eprints.usm.my/50380/
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spelling my.usm.eprints.50380 http://eprints.usm.my/50380/ A study of rbl gene in malaysian children with retinoblastoma: association of exon 18 mutation with clinical presentation Tajuddin, Liza Sharmini Ahmad R Medicine Background To date, there is no reports are available on RB I gene mutations in Malaysian children with retinoblastoma. The purpose of this study is to determine the presence of pocket B ElA domain mutations of RBI gene and their clinical presentation in Malaysian children with retinoblastoma (RB). Material and methods Children with RB from 2 main referral centers in Malaysia who fulfilled the inclusion criteria were enrolled into this study. Their clinical presentation were analyzed. Three mililitres of blood was taken for the genetic analysis from each patient. Mutations of exon 20 to 22 of RB I gene were identified by standard techniques of DNA extraction, PCR amplification, dHPLC and sequencing DNA. Results Fifty RB children (69 eyes) were recruited in this study. The most common presentation was leukocoria (65%) followed by strabismus (9%), proptosis (7%), orbital inflammation (10%), vitreous haemorhage (3%) and secondary glaucoma (3%). Majority presented at advanced stage. There was one mutation identified at the flanking region of intron 19 (substitution A~G). Conclusion: Leukocoria is the main clinical presentation in this study. Although strabismus, proptosis and orbital inflammation accounts about 26 % of the patients, it cannot be considered as rare presentation. One mutation was found in the flanking region ofintron 19. Pusat Pengajian Sains Perubatan, Universiti Sains Malaysia 2011 Article NonPeerReviewed application/pdf en http://eprints.usm.my/50380/1/DR.%20SITI%20RAIHAN%20BINTI%20%20ISHAK-24%20pages.pdf Tajuddin, Liza Sharmini Ahmad (2011) A study of rbl gene in malaysian children with retinoblastoma: association of exon 18 mutation with clinical presentation. A study of rbl gene in malaysian children with retinoblastoma: association of exon 18 mutation with clinical presentation.
institution Universiti Sains Malaysia
building Hamzah Sendut Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Sains Malaysia
content_source USM Institutional Repository
url_provider http://eprints.usm.my/
language English
topic R Medicine
spellingShingle R Medicine
Tajuddin, Liza Sharmini Ahmad
A study of rbl gene in malaysian children with retinoblastoma: association of exon 18 mutation with clinical presentation
description Background To date, there is no reports are available on RB I gene mutations in Malaysian children with retinoblastoma. The purpose of this study is to determine the presence of pocket B ElA domain mutations of RBI gene and their clinical presentation in Malaysian children with retinoblastoma (RB). Material and methods Children with RB from 2 main referral centers in Malaysia who fulfilled the inclusion criteria were enrolled into this study. Their clinical presentation were analyzed. Three mililitres of blood was taken for the genetic analysis from each patient. Mutations of exon 20 to 22 of RB I gene were identified by standard techniques of DNA extraction, PCR amplification, dHPLC and sequencing DNA. Results Fifty RB children (69 eyes) were recruited in this study. The most common presentation was leukocoria (65%) followed by strabismus (9%), proptosis (7%), orbital inflammation (10%), vitreous haemorhage (3%) and secondary glaucoma (3%). Majority presented at advanced stage. There was one mutation identified at the flanking region of intron 19 (substitution A~G). Conclusion: Leukocoria is the main clinical presentation in this study. Although strabismus, proptosis and orbital inflammation accounts about 26 % of the patients, it cannot be considered as rare presentation. One mutation was found in the flanking region ofintron 19.
format Article
author Tajuddin, Liza Sharmini Ahmad
author_facet Tajuddin, Liza Sharmini Ahmad
author_sort Tajuddin, Liza Sharmini Ahmad
title A study of rbl gene in malaysian children with retinoblastoma: association of exon 18 mutation with clinical presentation
title_short A study of rbl gene in malaysian children with retinoblastoma: association of exon 18 mutation with clinical presentation
title_full A study of rbl gene in malaysian children with retinoblastoma: association of exon 18 mutation with clinical presentation
title_fullStr A study of rbl gene in malaysian children with retinoblastoma: association of exon 18 mutation with clinical presentation
title_full_unstemmed A study of rbl gene in malaysian children with retinoblastoma: association of exon 18 mutation with clinical presentation
title_sort study of rbl gene in malaysian children with retinoblastoma: association of exon 18 mutation with clinical presentation
publisher Pusat Pengajian Sains Perubatan, Universiti Sains Malaysia
publishDate 2011
url http://eprints.usm.my/50380/1/DR.%20SITI%20RAIHAN%20BINTI%20%20ISHAK-24%20pages.pdf
http://eprints.usm.my/50380/
_version_ 1715190780667101184
score 13.211869

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