Repository of Research and Investigative Information

Repository of Research and Investigative Information

Zahedan University of Medical Sciences

Detection of a rare mutation in an Iranian family: codons 37/38/39 (7 bp deletion)

(2009) Detection of a rare mutation in an Iranian family: codons 37/38/39 (7 bp deletion). Hemoglobin. pp. 523-7. ISSN 0363-0269

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Abstract

We recently found a rare beta(0)-thalassemia (beta(0)-thal) mutation, namely codons 37/38/39 (-GACCCAG), in a consanguineous family from southeast Iran. The first cousin couple was heterozygous for the mutation. They had a healthy 4-year-old daughter and were referred to us for prenatal diagnosis at 6 weeks gestation in the second pregnancy. The fetus, based on results of sequencing of the beta-globing gene, was homozygous for the same mutation. Results of amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) on detection of this 7 bp deletion, and also restriction fragment length polymorphism (RFLP) analysis confirmed the homozygosity of the fetus.

Item Type: Article
Keywords: Child, Preschool Codon Consanguinity Female Frameshift Mutation *Homozygote Humans Infant, Newborn Iran Pregnancy Prenatal Diagnosis *Sequence Deletion beta-Globins/*genetics beta-Thalassemia/diagnosis/*genetics
Page Range: pp. 523-7
Journal or Publication Title: Hemoglobin
Journal Index: Pubmed
Volume: 33
Number: 6
Identification Number: https://doi.org/10.3109/03630260903343897
ISSN: 0363-0269
Depositing User: خانم مهدیه رضائی پور
URI: http://eprints.zaums.ac.ir/id/eprint/2973

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