Academic Journal
Methylenetetrahydrofolate reductase mutations, a genetic cause for familial recurrent neural tube defects
| العنوان: | Methylenetetrahydrofolate reductase mutations, a genetic cause for familial recurrent neural tube defects |
|---|---|
| المؤلفون: | Yaliwal, Laxmi V., Desai, Rathnamala M. |
| بيانات النشر: | Medknow Publications on behalf of Indian Society of Human Genetics |
| سنة النشر: | 2012 |
| المجموعة: | University of Toronto: Research Repository T-Space |
| مصطلحات موضوعية: | neural tube defects, methylenetetrahydrofolate reductase gene mutation, Folate |
| الوصف: | Methylenetetrahydrofolate reductase (MTHFR) gene mutations have been implicated as risk factors for neural tube defects (NTDs). The best-characterized MTHFR genetic mutation 677C→T is associated with a 2-4 fold increased risk of NTD if patient is homozygous for this mutation. This risk factor is modulated by folate levels in the body. A second mutation in the MTHFR gene is an A→C transition at position 1298. The 1298A→C mutation is also a risk factor for NTD, but with a smaller relative risk than 677C→T mutation. Under conditions of low folate intake or high folate requirements, such as pregnancy, this mutation could become of clinical importance. We present a case report with MTHFR genetic mutation, who presented with recurrent familial pregnancy losses due to anencephaly/NTDs. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | http://www.bioline.org.br/abstract?id=hg12024; http://www.bioline.org.br/hg; http://www.ijhg.com/; http://hdl.handle.net/1807/50030 |
| الاتاحة: | http://hdl.handle.net/1807/50030 http://www.bioline.org.br/abstract?id=hg12024 http://www.bioline.org.br/hg http://www.ijhg.com/ |
| Rights: | Copyright 2012 Indian Journal of Human Genetics. |
| رقم الانضمام: | edsbas.FAC5C730 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |