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Array comparative genomic hybridization based identification of key genetic alterations at 2p21-p16.3 (MSH2, MSH6, EPCAM), 3p23-p14.2 (MLH1), 7p22.1 (PMS2) and 1p34.1-p33 (MUTYH) regions in hereditary non polyposis colorectal cancer (Lynch syndrome) in the Kingdom of Saudi Arabia
المؤلفون المشاركون
Karim, Sajjad
Mirza, Zinat
Nusayr, Muhammad Umran
Pushparaj, Peter Natesan
Abu Samrah, Hibah
al-Quaiti, Maha
Shaabad, Manal
Sibiani, Abd al-Rahman Muhammad Said
Gauthaman, Kalamegam
al-Qahtani, Muhammad Husayn Muhammad
Rasul, Mahmud
المصدر
Saudi Journal of Biological Sciences
العدد
المجلد 27، العدد 1 (31 يناير/كانون الثاني 2020)، ص ص. 157-162، 6ص.
الناشر
تاريخ النشر
2020-01-31
دولة النشر
السعودية
عدد الصفحات
6
التخصصات الرئيسية
الموضوعات
الملخص EN
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.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Rasul, Mahmud& Pushparaj, Peter Natesan& Mirza, Zinat& Nusayr, Muhammad Umran& Abu Samrah, Hibah& al-Quaiti, Maha…[et al.]. 2020. Array comparative genomic hybridization based identification of key genetic alterations at 2p21-p16.3 (MSH2, MSH6, EPCAM), 3p23-p14.2 (MLH1), 7p22.1 (PMS2) and 1p34.1-p33 (MUTYH) regions in hereditary non polyposis colorectal cancer (Lynch syndrome) in the Kingdom of Saudi Arabia. Saudi Journal of Biological Sciences،Vol. 27, no. 1, pp.157-162.
https://search.emarefa.net/detail/BIM-920493
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Rasul, Mahmud…[et al.]. Array comparative genomic hybridization based identification of key genetic alterations at 2p21-p16.3 (MSH2, MSH6, EPCAM), 3p23-p14.2 (MLH1), 7p22.1 (PMS2) and 1p34.1-p33 (MUTYH) regions in hereditary non polyposis colorectal cancer (Lynch syndrome) in the Kingdom of Saudi Arabia. Saudi Journal of Biological Sciences Vol. 27, no. 1 (Jan. 2020), pp.157-162.
https://search.emarefa.net/detail/BIM-920493
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Rasul, Mahmud& Pushparaj, Peter Natesan& Mirza, Zinat& Nusayr, Muhammad Umran& Abu Samrah, Hibah& al-Quaiti, Maha…[et al.]. Array comparative genomic hybridization based identification of key genetic alterations at 2p21-p16.3 (MSH2, MSH6, EPCAM), 3p23-p14.2 (MLH1), 7p22.1 (PMS2) and 1p34.1-p33 (MUTYH) regions in hereditary non polyposis colorectal cancer (Lynch syndrome) in the Kingdom of Saudi Arabia. Saudi Journal of Biological Sciences. 2020. Vol. 27, no. 1, pp.157-162.
https://search.emarefa.net/detail/BIM-920493
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 162
رقم السجل
BIM-920493
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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