(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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