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[9000437.] رقم البحث : 9000437 - |
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MOLECULAR DIAGNOSIS IN TYPE1 DI ABETES IN CHILDREN / |
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قطاع الدراسات الطبية / الهندسه الوراثيه |
| تخصص البحث : الهندسه الوراثيه |
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Menoufia Medical Journal / / Vol. 25, No. 1 - Janury 2012 |
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Khalil El-Halafawy |
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T1D IDDM HLA DRB1 Genes SSP-PCR |
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Background: In type1 diabetes (T1D) The most important genes are located
within the major histocompatibility complex(MHC) HLA class II region on
chromosome 6p21, a locus termed Insulin Dependent Diabetes Mellitus
(IDDM), which alone accounts for approximately 40-45% of the genetic
susceptibility to T1D. Association between autoimmune diseases and
alleles of genes in the MHC region is among the most consistent findings in
human genetics. Genes in the region are involved in the immune response
e.g. by presentation of antigenic peptides to T lymphocytes. But even though
the function of the proteins encoded by these genes is well known, their
specific contribution to the pathogenesis and the exact mechanisms by which
the locus confers susceptibility to immune- mediated destruction of the
pancreatic islets is still not clear.
AIMES: The aim of our study was to confirm the contribution of HLA-DDRB1
polymorphisms to T1D genetic susceptibility for the Egyptian children
population.
Patients and methods: Twenty IDDM children of 14 boys and 6 girls with
another twenty matched healthy subjects12 boys and 8 girls (as Control)
were studied. Using standard operating procedure (SOP) for peripheral –
blood-mononuclear cells (PBMC) (Isolation and cryopreservation, Protocol
used at KFSH&RC, Cross-Network Version 1:04 November2005) to
determine and comparing the frequency of HLA-DRB1*04
alleles(DRB1*0401,DRB1*0403 DRB1*0409 ,DRB1*0417, DRB1*0428
,DRB1*0436)(Table7) using Sequence Specific Primer-Polymerase Chain
Reaction (SSP-PCR).
Results: Three different significant alleles,DRB1*0401,OR: 7.364 , P=0.013
,DRB1*0403 ,OR:6.000,P=0.028 and DRB1*0428 , OR: 0.064, P=0.003.
DRB1*0409, DRB1*0417, DRB1*0401(Table7)
Conclusion: This study demonstrates that the susceptibility and protective
human lymphocyte antigen (HLA) alleles play an important role in T1DM in
the Egyptian children population. |
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