screening of c-kit gene mutation in acute myeloid leukaemia in northern india

نویسندگان

rizwan hussain dept. of biochemistry, era’s lucknow medical college and hospital, lucknow, india

tasleem raza dept. of biochemistry, era’s lucknow medical college and hospital, lucknow, india

sunil babu dept. of biotechnology, babasaheb bhimrao ambedkar university, lucknow, india

praduymn singh dept. of pathology, christian medical college, vellore, india

چکیده

background: acute myeloid leukaemia (aml) is a cancer of blood-forming cells in bone marrow. c-kit gene is a receptor tyrosine kinase class iii (rtk) that is expressed by early hematopoietic progenitor cells and plays an important role in hematopoietic stem cell proliferation, differentiation and survival. it is known that c-kit is a proto-oncogene and the activating c-kit mutations are likely to contribute in the development of leukaemia in humans. exon 11 of c-kit gene is the frequent site for mutations in different kinds of tumours. methods:  in order to determine the frequency and prevalence of exon 11 mutations in 51 aml cases, we have done polymerase chain reaction-single-strand conformational polymorphism followed by direct dna sequencing.   results: the c-kit mutations in exon 11 were detected in 15.68% (8/51) in aml cases. we have detected totally ten missense mutations in eight aml cases those include lys550asn, tyr568ser, ile571leu, tyr578pro, trp582ser and arg588met and novel missense mutations at codons ile563lys and val569leu. mutations at codons ile571leu and trp582ser was found in two independent cases. conclusion: the presence of c-kit mutations in our study adds to investigative spectrum of aml cases. since the c-kit mutations are seen in other malignancies, mutations in exon 11 of the c-kit gene might be involve in pathogenesis and represent useful predictive genetic marker in aml. further studies in larger group of cases possibly will be required to determine the prognostic implications and to investigate how these mutations are co-related to the progression and pathogenesis of aml.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Screening of C-kit gene Mutation in Acute Myeloid Leukaemia in Northern India

BACKGROUND Acute Myeloid Leukaemia (AML) is a cancer of blood-forming cells in bone marrow. C-kit gene is a Receptor Tyrosine Kinase class III (RTK) that is expressed by early hematopoietic progenitor cells and plays an important role in hematopoietic stem cell proliferation, differentiation and survival. It is known that c-kit is a proto-oncogene and the activating c-kit mutations are likely t...

متن کامل

Expression Profiling of Microarray Gene Signatures in Acute and Chronic Myeloid Leukaemia in Human Bone Marrow

Background Classification of cancer subtypes by means of microarray signatures is becoming increasingly difficult to ignore as a potential to transform pathological diagnosis nonetheless, measurement of Indicator genes in routine practice appears to be arduous. In a preceding published study, we utilized real-time PCR measurement of Indicator genes in acute lymphoid leukaemia (ALL) and acute m...

متن کامل

Glutathione S-transferases Null Genotype in Acute Myeloid Leukaemia

Background: The glutathione S-transferase (GST) family of metabolising enzymes plays an important role in the detoxification of mutagens and carcinogens. The expression of many of these cancer susceptibility enzymes is genetically polymorphic. An increased frequency of GST-null genotypes has been associated with several malignancies. Objective: To investigate the rate of GSTT1 and GSTM1 null ge...

متن کامل

c-kit proto-oncogene exon 8 in-frame deletion plus insertion mutations in acute myeloid leukaemia.

Genomic DNA from 60 cases of acute myeloid leukaemia (AML) was screened for mutations in the c-kit gene. DNA from all 21 exons was subjected to polymerase chain reaction (PCR) amplification and analysis by conformation sensitive gel electrophoresis (CSGE); exons showing altered CSGE patterns were then sequenced. Mutations were identified only in those patients with inv(16) (3/7 cases) or t(8;21...

متن کامل

The Relationship between Mutation in HOXB1 Gene and Acute Myeloid Leukemia

Background: HOX genes are an exceedingly preserved family of homeodomain-involving transcription factors. They are related to a number of malignancies, comprising acute myeloid leukemia (AML). This study aimed to evaluate the effect of HOXB1 7bp deletion mutation on HOXB1gene expression in 36 individuals. Materials and Methods: The present cross-sectional study was done on a large Iranian fami...

متن کامل

Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran

Background Wilson disease (WD) is a rare autosomal recessive disorder, which leads to copper metabolism, due to mutations in ATP7B gene. The gene responsible for WD consists of 21 exons that span a genomic region of about 80 kb and encodes a copper transporting P-type ATPase (ATP7B), a protein consisting of 1465 amino acids. Identifying mutation in ATP7B gene is important to find carrier i...

متن کامل

منابع من

با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید


عنوان ژورنال:
iranian journal of cancer prevention

جلد ۵، شماره ۱، صفحات ۲۷-۳۲

کلمات کلیدی
[ ' p r o t o ' , ' o n c o g e n e p r o t e i n s c ' , ' k i t ' , ' a c u t e m y e l o i d l e u k a e m i a ' , ' m u t a t i o n ' , ' p o l y m e r a s e c h a i n r e a c t i o n ' , ' s i n g l e ' , ' s t r a n d e d c o n f o r m a t i o n a l p o l y m o r p h i s m p l e a s e c i t e t h i s a r t i c l e a s ' , ' h u s s a i n s r ' , ' r a z a s t ' , ' b a b u s g ' , ' s i n g h p ' , ' n a q v i h ' , ' m a h d i f . s c r e e n i n g o f c ' , ' k i t g e n e m u t a t i o n i n a c u t e m y e l o i d l e u k a e m i a i n n o r t h e r n i n d i a . i r a n j c a n c e r p r e v . 2 0 1 2 ' , ' v o l 5 ' , ' n o 1 ' , ' p 2 7 ' , ' 3 2 . r e f e r e n c e s 1 . c o l i n d m a t h e r s ' , ' c y n t h i a b o s c h i ' , ' p i n t o ' , ' a l a n d l o p e z ' , ' c h r i s t o p h e r j l m . c a n c e r i n c i d e n c e ' , ' m o r t a l i t y a n d s u r v i v a l b y s i t e f o r 1 4 r e g i o n s o f t h e w o r l d . w o r l d h e a l t h o r g a n i z a t i o n 2 0 0 1 . 2 . r e i l l y j t . c l a s s i i i r e c e p t o r t y r o s i n e k i n a s e s ' , ' r o l e i n l e u k a e m o g e n e s i s . b r j h a e m a t o l . 2 0 0 2 ' , 1 1 6 , 7 4 4 , ' 5 7 . 3 . t s e k f ' , ' n o v e l l i e ' , ' c i v i n c i ' , ' b o h m e r f d ' , ' s m a l l d . i n h i b i t i o n o f f l t 3 ' , ' m e d i a t e d t r a n s f o r m a t i o n b y u s e o f a t y r o s i n e k i n a s e i n h i b i t o r . l e u k e m i a . 2 0 0 1 ' , 1 5 , 1 0 0 1 , ' 1 0 . 4 . k e l l y l m ' , ' k u t o k j l ' , ' w i l l i a m s i r ' , ' b o u l t o n c l ' , ' a m a r a l s m ' , ' c u r l e y d p ' , ' e t a l . p m l / r a r a l p h a a n d f l t 3 ' , ' i t d i n d u c e a n a p l ' , ' l i k e d i s e a s e i n a m o u s e m o d e l . p r o c n a t l a c a d s c i u s a . 2 0 0 2 ' , 9 9 , 8 2 8 3 , ' 8 . 5 . l e v i s m ' , ' t s e k f ' , ' s m i t h b d ' , ' g a r r e t t e ' , ' s m a l l d . a f l t 3 t y r o s i n e k i n a s e i n h i b i t o r i s s e l e c t i v e l y c y t o t o x i c t o a c u t e m y e l o i d l e u k e m i a b l a s t s h a r b o r i n g f l t 3 i n t e r n a l t a n d e m d u p l i c a t i o n m u t a t i o n s . b l o o d . 2 0 0 1 ' , 9 8 , 8 8 5 , ' 7 . 6 . y a r d e n y ' , ' u l l r i c h a . g r o w t h f a c t o r r e c e p t o r t y r o s i n e k i n a s e . a n n u r e v b i o c h e m . 1 9 8 8 ' , 5 7 , 4 4 3 , ' 7 8 . 7 . a b u ' , ' d u h i e r f m ' , ' g o o d e v e a c ' , ' w i l s o n g a ' , ' c a r e r s ' , ' p e a k e i r ' , ' r e i l l y j t . i d e n t i f i c a t i o n o f n o v e l f l t ' , ' 3 a s p 8 3 5 m u t a t i o n s i n a d u l t a c u t e m y e l o i d l e u k a e m i a . b r j h a e m a t o l . 2 0 0 1 ' , 1 1 3 , 9 8 3 , ' 8 . 8 . y i n g ' , ' y o n g h ' , ' y u n ' , ' s h a n t ' , ' m e n g ' , ' h o n g s ' , ' y o n g ' , ' k u n w e i ' , ' j i a n ' , ' f a n g x u ' , ' s h a o ' , ' h u a l u ' , ' e t a l . c ' , ' k i t g e n e m u t a t i o n i n h u m a n g a s t r o i n t e s t i n a l s t r o m a l t u m o r s . w o r l d j g a s t r o e n t e r o l . 2 0 0 4 ' , 1 0 , 1 3 1 0 , ' 1 4 . 9 . w a k i t a s ' , ' y a m a g u c h i h ' , ' m i y a k e k ' , ' m i t a m u r a y ' , ' k o s a k a f ' , ' d a n k ' , ' e t a l . i m p o r t a n c e o f c ' , ' k i t m u t a t i o n d e t e c t i o n m e t h o d s e n s i t i v i t y i n p r o g n o s t i c a n a l y s e s o f t ( 8 ' , ' 2 1 ) ( q 2 2 ' , ' q 2 2 ) a c u t e m y e l o i d l e u k e m i a . l e u k e m i a . 2 0 1 1 ' , 2 5 , 1 4 2 3 , ' 3 2 . 1 0 . z a k e r f ' , ' m o h a m m a d z a d e h m ' , ' m o h a m m a d i . d e t e c t i o n o f k i t a n d f l t 3 m u t a t i o n s i n a c u t e m y e l o i d l e u k e m i a w i t h d i f f e r e n t s u b t y p e s . a r c h i r a n m e d . 2 0 1 0 ' , 1 3 , ' 2 1 5 . 1 1 . t i a n q ' , ' h e n r y f f j r ' , ' g e o f f r e y w k ' , ' m o s k a l u k c a . a c t i v a t i n g c ' , ' k i t g e n e m u t a t i o n s i n h u m a n g e r m c e l l t u m o r s . a m j p a t h o l . 1 9 9 9 ' , 6 , ' 1 5 4 . 1 2 . l i z e t t e v i l a ' , ' h o n g y a n l i u ' , ' s a m e r z a l ' , ' q u r a n ' , ' d o m i n i q u e p c ' , ' h u i ' , ' j i a d o n g ' , ' c h e n l i u . i d e n t i f i c a t i o n o f c ' , ' k i t g e n e m u t a t i o n s i n p r i m a r y a d e n o i d c y s t i c c a r c i n o m a o f t h e s a l i v a r y g l a n d . m o d e r n p a t h o l o g y . 2 0 0 9 ' , 2 2 , ' 1 2 9 6 3 0 2 . 1 3 . c o l e s r ' , ' a y l e t t g w ' , ' h a r v e y n l ' , ' c a m b a r e r i a c ' , ' a s h m a n l k . i n c r e a s e d e x p r e s s i o n o f c ' , ' k i t o r i t s l i g a n d s t e e l f a c t o r i s n o t a c o m m o n f e a t u r e o f a d u l t a c u t e m y e l o i d l e u k a e m i a . l e u k e m i a . 1 9 9 6 ' , 1 0 , 2 8 8 , ' 9 6 . 1 4 . h i g u c h i m ' , ' o b r i e n d ' , ' k u m a r a v e l u p ' , ' l e n n y n ' , ' t e o h e j ' , ' d o w n i n g j r . e x p r e s s i o n o f a c o n d i t i o n a l a m l 1 ' , ' e t o o n c o g e n e b y p a s s e s e m b r y o n i c l e t h a l i t y a n d e s t a b l i s h e s a m u r i n e m o d e l o f h u m a n t ( 8 ' , ' 2 1 ) a c u t e m y e l o i d l e u k e m i a . c a n c e r c e l l . 2 0 0 2 ' , 1 , 6 3 , ' 7 4 . 1 5 . p a r k s h ' , ' c h i h s ' , ' m i n s k ' , ' p a r k b g ' , ' j a n g s ' , ' p a r k c j . p r o g n o s t i c i m p a c t o f c ' , ' k i t m u t a t i o n s i n c o r e b i n d i n g f a c t o r a c u t e m y e l o i d l e u k e m i a . l e u k r e s . 2 0 1 1 ' , ' 3 5 ( 1 0 ) ' , 1 3 7 6 , ' 8 3 . 1 6 . i h l e j n ' , ' w i t t h u h n b a ' , ' q u e l l e f w ' , ' y a m a m o t o k ' , ' s i l v e n n o i n e n o . s i g n a l i n g t h r o u g h t h e h e m a t o p o i e t i c c y t o k i n e r e c e p t o r s . a n n u r e v i m m u n o l . 1 9 9 5 ' , 1 3 , 3 6 9 , ' 9 8 . 1 7 . b e n n e t t j m ' , ' c a t o v s k y d ' , ' d a n i e l m t ' , ' f l a n d r i n g ' , ' g a l t o n d a ' , ' g r a l n i c k h r ' , ' e t a l . p r o p o s a l f o r t h e c l a s s i f i c a t i o n o f t h e a c u t e l e u k a e m i a s f r e n c h a m e r i c a n b r i t i s h ( f a b ) c o o p e r a t i v e g r o u p . b r j h a e m a t o l . 1 9 7 6 ' , 3 3 , 4 5 1 , ' 8 . 1 8 . o r i t a m ' , ' i w a h a n a h ' , ' k a n a z a w a h ' , ' h a y a s h i k ' , ' s e k i y a t . d e t e c t i o n o f p o l y m o r p h i s m s o f h u m a n d n a b y g e l e l e c t r o p h o r e s i s a s s i n g l e ' , ' s t r a n d c o n f o r m a t i o n p o l y m o r p h i s m . p r o c n a t l a c a d s c i u s a . 1 9 8 9 ' , 8 6 , 2 7 6 6 , ' 7 0 . 1 9 . r u b i n b p ' , ' s i n g e r s ' , ' t s a o c ' , ' d u e n s i n g a ' , ' l u x m l ' , ' r u i z r ' , ' e t a l . k i t a c t i v a t i o n i s a u b i q u i t o u s f e a t u r e o f g a s t r o i n t e s t i n a l s t r o m a l t u m o r s . c a n c e r r e s . 2 0 0 1 ' , 6 1 , ' 8 1 1 8 2 1 . 2 0 . r i e y ' , ' c h o h e i s ' , ' k a t s u m i s ' , ' f u j i t a y ' , ' n a k a n i s h i m ' , ' a r a g a n e h ' , ' e t a l . m u t a t i o n s i n e x o n ' , ' 1 1 o f t h e c ' , ' k i t g e n e i n a m y o g e n i c t u m o r a n d a n e u r o g e n i c t u m o r a s w e l l a s i n g a s t r o i n t e s t i n a l s t r o m a l t u m o r s . d i g e s t s u r g . 2 0 0 3 ' , 2 0 , 1 8 3 , ' 9 1 . 2 1 . h i l m a n s ' , ' s o t h i s ' , ' p e a k e d ' , ' a n d e r s s o n j ' , ' m e i s j m . g a s t r o i n t e s t i n a l s t r o m a l t u m o u r w i t h a k i t e x o n 1 1 m u t a t i o n p r e s e n t i n g a s a p a r a t e s t i c u l a r m a s s . t h e b r i t i s h j o u r n a l o f r a d i o l o g y . 2 0 0 9 ' , 8 2 , ' 9 8 1 0 1 . 2 2 . z a f e r k ' , ' g a y e g t ' , ' a k t u g h s ' , ' g o k h a n g ' , ' h u s e y i n b . k i t a n d p d g f r a m u t a t i o n a n a l y s i s o f g i s t . t u r k i s h j o u r n a l o f c a n c e r . 2 0 0 9 ' , 3 9 , 1 1 , ' 1 7 . 2 3 . a n t o n e s c u c r ' , ' g u n h i l d s ' , ' l i s a s ' , ' s y l v i a j t ' , ' e l y n r ' , ' j a m e s m w ' , ' e t a l . a s s o c i a t i o n o f k i t e x o n 9 m u t a t i o n s w i t h n o n g a s t r i c p r i m a r y s i t e a n d a g g r e s s i v e b e h a v i o r ' , ' k i t m u t a t i o n a n a l y s i s a n d c l i n i c a l c o r r e l a t e s o f 1 2 0 g a s t r o i n t e s t i n a l s t r o m a l t u m o r s . c l i n c a n c e r r e s . 2 0 0 3 ' , 9 , ' 3 3 2 9 3 7 . 2 4 . c h o e y s ' , ' k i m j g ' , ' s o h n s k ' , ' k i m d h ' , ' b a c k j h ' , ' l e e k d ' , ' e t a l . c ' , ' k i t e x p r e s s i o n a n d m u t a t i o n s i n p e r i p h e r a l t c e l l l y m p h o m a s ' , ' e x c e p t f o r e x t r a ' , ' n o d a l n k / t c e l l l y m p h o m a s . l e u k l y m p h o m a . 2 0 0 6 ' , 4 7 , 2 6 7 , ' 7 0 . 2 5 . t a e w k ' , ' h y o u n g n a m l ' , ' y o o n ' , ' k o o k ' , ' m i s u n c h o e ' , ' m i n ' , ' h e e r ' , ' h e u n g m c ' , ' e t a l . p r o g n o s t i c s i g n i f i c a n c e o f c ' , ' k i t m u t a t i o n i n l o c a l i z e d g a s t r o i n t e s t i n a l s t r o m a l t u m o r s . c l i n c a n c e r r e s . 2 0 0 4 ' , 1 0 , ' 3 0 7 6 8 1 . 2 6 . t a n i g u c h i m ' , ' t o s h i r o u n ' , ' s e i i c h i h ' , ' k o j i i s o z a k i ' , ' t o s h i n o r i i t o ' , ' t a i s e i n o m u r a ' , ' e t a l . e f f e c t o f c ' , ' k i t m u t a t i o n o n p r o g n o s i s o f g a s t r o i n t e s t i n a l s t r o m a l t u m o r s . c a n c e r r e s . 1 9 9 9 ' , 5 9 , ' 4 2 9 7 3 0 0 . ' ]

میزبانی شده توسط پلتفرم ابری doprax.com

copyright © 2015-2023