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Screening of insulin (INS) gene in permanent neonatal diabetes during the first year of life / Aisha Omar Mohamed Atef Tolba ; Supervised Nadida Abdelhamid Gohar , Walaa Ahmed Mohamed Rabie , Marwa Farouk Mira

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Aisha Omar Mohamed Atef Tolba , 2014Description: 117 P. : charts , facsimiles ; 25cmOther title:
  • فحص چين الأنسولين في داء السكرى الدائم لحديثي الولادة خلال السنة الأولي من الحياة [Added title page title]
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Dissertation note: Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology Summary: Background: Permanent neonatal diabetes (PND) is a monogenic form of diabetes resulting from mutations in a number of different genes encoding proteins that play a key role in the normal function of the pancreatic beta-cell. A correct genetic diagnosis can affect treatment and clinical outcome. Mutations in the insulin gene (INS) itself have been identified as a cause of neonatal diabetes. This study aimed to investigate the genetic variations in the coding region and intronic boundaries of INS gene and their genotype phenotype correlation in a group of Egyptian PNDM infants with onset in the first 12 months of age. Conclusion: Genetic screening for the INS gene did not reveal any evident role in diagnosis of PNDM among the studied group of Egyptian children
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Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.M.Sc.2014.Ai.S (Browse shelf(Opens below)) Not for loan 01010110065308000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.M.Sc.2014.Ai.S (Browse shelf(Opens below)) 65308.CD Not for loan 01020110065308000

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Background: Permanent neonatal diabetes (PND) is a monogenic form of diabetes resulting from mutations in a number of different genes encoding proteins that play a key role in the normal function of the pancreatic beta-cell. A correct genetic diagnosis can affect treatment and clinical outcome. Mutations in the insulin gene (INS) itself have been identified as a cause of neonatal diabetes. This study aimed to investigate the genetic variations in the coding region and intronic boundaries of INS gene and their genotype phenotype correlation in a group of Egyptian PNDM infants with onset in the first 12 months of age. Conclusion: Genetic screening for the INS gene did not reveal any evident role in diagnosis of PNDM among the studied group of Egyptian children

Issued also as CD

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