Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme
المؤلفون المشاركون
Kumar, Ravindra
Arya, Vandana
Agarwal, Sarita
المصدر
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-10-21
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Mutation spectrum varies significantly in different parts and different ethnic groups of India.
Social factors such as preference to marry within the community and among 1st degree relatives (consanguinity) play an important role in impeding the gene pool of the disease within the community and so in society by and large.
The present paper discusses the role of consanguinity in profiling of beta thalassemia mutation, and thus the approach for prenatal screening and prevention based awareness programme.
Clinically diagnosed 516 cases of beta thalassemia were screened at molecular level.
A detailed clinical Proforma was recorded with the information of origin of the family, ethnicity, and consanguinity.
The present study reports that subjects originating from Uttar Pradesh, Uttarakhand, Bihar, and Jharkhand have c.92+5G>C and c.124_127delTTCT mutation as the commonest mutation compared to the subjects hailing from Madhya Pradesh and Chhattisgarh and Nepal where sickle mutation was found more common.
In 40 consanguineous unions more common and specific beta mutations with higher rate of homozygosity have been reported.
This consanguinity-based data helps not only in deciding target oriented prenatal diagnostic strategies but also in objective based awareness programmes in prevention of thalassemia major birth.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Kumar, Ravindra& Arya, Vandana& Agarwal, Sarita. 2015. Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme. Advances in Hematology،Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1052446
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Kumar, Ravindra…[et al.]. Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme. Advances in Hematology No. 2015 (2015), pp.1-5.
https://search.emarefa.net/detail/BIM-1052446
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Kumar, Ravindra& Arya, Vandana& Agarwal, Sarita. Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme. Advances in Hematology. 2015. Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1052446
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1052446
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر