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A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level
المؤلفون المشاركون
Zhang, Yanni
Chen, Huishuang
Peng, Zhiyu
Banerjee, Santasree
Li, Wei
Zhao, Zhaolong
Sun, Jianbin
Lv, Jian
Huang, Hui
Bai, Ru
Lin, Keke
Li, Zhongxin
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-8، 8ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-11-14
دولة النشر
مصر
عدد الصفحات
8
التخصصات الرئيسية
الملخص EN
Lynch syndrome is a genetically and clinically heterogeneous disorder; it is caused by a germline mutation in DNA mismatch repair (MMR) genes.
Individuals with a heterozygous mutation in MLH1 have an increased risk for developing colorectal cancer.
Here we described a 5-generation Chinese Lynch syndrome family with different severity and onset age.
A novel heterozygous germline mutation (c.3G>T, p.Met1Ile) in MLH1 gene was discovered by next generation sequencing.
Our study also revealed by qPCR that the MLH1 mRNA expression in peripheral blood of patients in this family was remarkably lower than that of the unaffected carriers and non-carriers.
The research results indicated that the mRNA expression level may provide predictive suggestions of treatment and management for carriers with the initiation codon mutation of MLH1 in this family.
Further studies are undertaken in this family as well as other families with Lynch syndrome to interrogate the exact reasons affecting the MLH1 mRNA expression level and whether mRNA expression in peripheral blood could be a significant factor for early diagnosis and surveillance of Lynch syndrome.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Zhang, Yanni& Chen, Huishuang& Peng, Zhiyu& Banerjee, Santasree& Li, Wei& Zhao, Zhaolong…[et al.]. 2018. A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level. BioMed Research International،Vol. 2018, no. 2018, pp.1-8.
https://search.emarefa.net/detail/BIM-1124333
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Zhang, Yanni…[et al.]. A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level. BioMed Research International No. 2018 (2018), pp.1-8.
https://search.emarefa.net/detail/BIM-1124333
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Zhang, Yanni& Chen, Huishuang& Peng, Zhiyu& Banerjee, Santasree& Li, Wei& Zhao, Zhaolong…[et al.]. A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-8.
https://search.emarefa.net/detail/BIM-1124333
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1124333
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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