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Monoallelic mutations


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#1 niveda

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Posted 19 August 2009 - 05:47 AM

Hi,
Iam new to genetics. My current project is on the genetic basis of certain cardiac diseases.
Could anyone help me in selecting a protocol for studying monoallelic mutations.IS there any other way than SSCP followed by sequencing.Kindly let me know, as journals are confusing
Thanks for any single help

#2 AnglinaS

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Posted 14 October 2009 - 02:42 AM

Hi,
Iam new to genetics. My current project is on the genetic basis of certain cardiac diseases.
Could anyone help me in selecting a protocol for studying monoallelic mutations.IS there any other way than SSCP followed by sequencing.Kindly let me know, as journals are confusing
Thanks for any single help



Hello,

As you know Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers.

Autosomal dominant cancer predisposition genes for common cancers such as breast cancer and colorectal cancer have been well recognized for over a decade. Monoallelic mutations in these genes are associated with high risks of adult-onset cancer. In recent years, it has become apparent that biallelic mutations in some of these genes, such as BRCA2, MSH2 and MLH1, result in distinctive phenotypes, including childhood cancer predisposition. Conversely, it has also become evident that some genes which cause autosomal recessive cancer predisposition syndromes such as Fanconi anaemia and ataxia-telangiectasia are associated with modestly increased risks of adult cancers in monoallelic mutation carriers.


Business long distance

Edited by AnglinaS, 14 October 2009 - 02:43 AM.


#3 Serkan

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Posted 16 October 2009 - 02:12 PM

Hi..
i don't know exactly another way. Denaturing Gradient Gel Electrophoresis (DGGE) may be. you can also analyze fragments more than 500 bp. it is same SSCP (less than 500bp). SSCP is diffucult. you can need to optimize. if you practice, you may obtain best results. if you see any problems,I could help you with all I know.

Moreover, Look it... you might subserve

Kuklin, A. et al., Detection of single-nucleotide polymorphisms with the WAVE DNA fragment
analysis
system, Genet. Test., 1, 201, 1997.

bye




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