Literature DB >> 7909397

Prenatal diagnosis of sickle cell anemia using PCR and restriction enzyme Dde I.

A Gürgey1, S Beksaç, L Mesci, N Cakar, U Karakaş, A Kutlar, C Altay.   

Abstract

Prenatal diagnosis of sickle cell anemia was carried out in four fetuses using DNA technology. Fetal chorionic villus specimen were obtained at the 10th week of pregnancy from women at risk of giving birth to children with sickle cell anemia. Whole cellular DNA was obtained and the part of the DNA presumed to have a mutation increased after PCR was performed. After the application of Dde I restriction enzyme, mini gel electrophoresis was performed. The study of the electrophoretic patterns of the DNA indicated that one of the four fetuses was unaffected, one was a carrier and the remaining two were affected.

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Year:  1993        PMID: 7909397

Source DB:  PubMed          Journal:  Turk J Pediatr        ISSN: 0041-4301            Impact factor:   0.552


  2 in total

1.  Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.

Authors:  Murali Dharan Bashyam; Leena Bashyam; Gorinabele R Savithri; Munimanda Gopikrishna; Vartul Sangal; Akela Radha Rama Devi
Journal:  J Hum Genet       Date:  2004-07-24       Impact factor: 3.172

Review 2.  Computational and experimental approaches to reveal the effects of single nucleotide polymorphisms with respect to disease diagnostics.

Authors:  Tugba G Kucukkal; Ye Yang; Susan C Chapman; Weiguo Cao; Emil Alexov
Journal:  Int J Mol Sci       Date:  2014-05-30       Impact factor: 5.923

  2 in total

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