Abstract:
:Lynch syndrome is inherited in an autosomal dominant mode. Lynch syndrome is caused by impairment of one or more of the various genes (most frequently MLH1 and MSH2) involved in mismatch repair. In this study, whole genome comparative genomic hybridization array (array CGH) based genomic analysis was performed on twelve Saudi Lynch syndrome patients. A total of 124 chromosomal alterations (structural loss) were identified at mean log2 ratio cut off value of ±0.25. We also found structural loss in 2p21-p16.3, 3p23-p14.2, 7p22.1 and 1p34.1-p33 regions. These findings were subsequently validated by real time quantitative PCR showing downregulation of MSH2, MSH6, EPCAM, MLH1, PMS2 and MUTYH genes. These findings shall help in establishing database for alterations in mismatch repair genes underlying Lynch syndrome in Saudi population as well as to determine the incidence ratio of these disorders. Guided counselling will subsequently lead to the prevention and eradication of Lynch Syndrome in the local population.
journal_name
Saudi J Biol Scijournal_title
Saudi journal of biological sciencesauthors
Rasool M,Pushparaj PN,Mirza Z,Imran Naseer M,Abusamra H,Alquaiti M,Shaabad M,Sibiany AMS,Gauthaman K,Al-Qahtani MH,Karim Sdoi
10.1016/j.sjbs.2019.06.012subject
Has Abstractpub_date
2020-01-01 00:00:00pages
157-162issue
1eissn
1319-562Xissn
2213-7106pii
S1319-562X(19)30109-3journal_volume
27pub_type
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journal_title:Saudi journal of biological sciences
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journal_title:Saudi journal of biological sciences
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journal_title:Saudi journal of biological sciences
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journal_title:Saudi journal of biological sciences
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journal_title:Saudi journal of biological sciences
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journal_title:Saudi journal of biological sciences
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journal_title:Saudi journal of biological sciences
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journal_title:Saudi journal of biological sciences
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更新日期:2017-05-01 00:00:00
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journal_title:Saudi journal of biological sciences
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doi:10.1016/j.sjbs.2013.09.010
更新日期:2014-09-01 00:00:00
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journal_title:Saudi journal of biological sciences
pub_type: 杂志文章,评审
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更新日期:2019-11-01 00:00:00
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journal_title:Saudi journal of biological sciences
pub_type: 杂志文章
doi:10.1016/j.sjbs.2019.03.006
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journal_title:Saudi journal of biological sciences
pub_type: 杂志文章
doi:10.1016/j.sjbs.2016.01.010
更新日期:2017-09-01 00:00:00
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journal_title:Saudi journal of biological sciences
pub_type: 杂志文章
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更新日期:2018-05-01 00:00:00
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journal_title:Saudi journal of biological sciences
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journal_title:Saudi journal of biological sciences
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journal_title:Saudi journal of biological sciences
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journal_title:Saudi journal of biological sciences
pub_type: 杂志文章,评审
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journal_title:Saudi journal of biological sciences
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journal_title:Saudi journal of biological sciences
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journal_title:Saudi journal of biological sciences
pub_type: 杂志文章
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journal_title:Saudi journal of biological sciences
pub_type: 杂志文章
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journal_title:Saudi journal of biological sciences
pub_type: 杂志文章
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journal_title:Saudi journal of biological sciences
pub_type: 杂志文章,评审
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更新日期:2020-12-01 00:00:00