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A study of KIT activating mutations in acute myeloid leukemia M0 subtype in North India
المؤلفون المشاركون
Husayn, Sayyid Radwan
Naqvi, Hena
Singh, Pradyumn
Babu, Sunil G.
Mahdi, Farzana
المصدر
The Egyptian Journal of Medical Human Genetics
العدد
المجلد 13، العدد 2 (31 أغسطس/آب 2012)، ص ص. 133-138، 6ص.
الناشر
الجمعية المصرية للأمراض الوراثية
تاريخ النشر
2012-08-31
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الموضوعات
الملخص EN
Acute Myeloid Leukemia (AML)-M0 is a cancer of blood-forming cells in the bone marrow.
KIT gene is a receptor tyrosine kinase class III that is expressed on by early hematopoietic progenitor cells and plays an important role in hematopoietic stem cell proliferation, differentiation and survival.
Mutations of KIT receptor tyrosine kinase are involved in the constitutive activation and development of human hematologic malignancies.
We have designed this study aiming to identify and determine the frequency and prevalence of mutations in North Indian patients suffering from AML-M0.
To perceive the KIT gene mutations, we have carried out PCR–SSCP followed by direct DNA sequencing in 50 AML-M0 cases.
We have found eight cases (24.2 %) with t (8 ; 21) having 12 point mutations whereas three cases (17.6%) with in (16) having four point mutations.
The point mutation detected at exon 9 in five cases is Asp496Val.
Eight different point mutations were identified at exon 11 in seven AML-M0 cases that include Lys550Asn, Tyr568Ser, Ile571Leu, Tyr578Pro, Trp582Ser and Arg588Met.
Point mutations at codons Ile571Leu and Trp582Ser was found in two independent cases.
Three point mutations were found in exon 17 (Leu813Pro, Lys818Arg, Val825Ala) in three AML-M0 cases.
The results underline that the KIT gene appears to be most frequently mutated target in AML-M0 cases.
These observations suggest that mutations in exon 11 of the KIT gene might be useful molecular genetic markers in AML-M0 and these mutations might be related to progression and clinical pathogenesis.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Husayn, Sayyid Radwan& Naqvi, Hena& Singh, Pradyumn& Babu, Sunil G.& Mahdi, Farzana. 2012. A study of KIT activating mutations in acute myeloid leukemia M0 subtype in North India. The Egyptian Journal of Medical Human Genetics،Vol. 13, no. 2, pp.133-138.
https://search.emarefa.net/detail/BIM-312954
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Husayn, Sayyid Radwan…[et al.]. A study of KIT activating mutations in acute myeloid leukemia M0 subtype in North India. The Egyptian Journal of Medical Human Genetics Vol. 13, no. 2 (2012), pp.133-138.
https://search.emarefa.net/detail/BIM-312954
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Husayn, Sayyid Radwan& Naqvi, Hena& Singh, Pradyumn& Babu, Sunil G.& Mahdi, Farzana. A study of KIT activating mutations in acute myeloid leukemia M0 subtype in North India. The Egyptian Journal of Medical Human Genetics. 2012. Vol. 13, no. 2, pp.133-138.
https://search.emarefa.net/detail/BIM-312954
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 137-138
رقم السجل
BIM-312954
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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