Detection of a rare mutation in an Iranian family: codons 37/38/39 (7 bp deletion).
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.
Zadeh-Vakili
Azita
A
Thalassemia Prenatal Diagnosis Center, Ali Asghar Hospital, Zahedan University of Medical Sciences, Zahedan, Iran. Azitavakili@gmail.com
Eshghi
Payman
P
D002675:Child, Preschool; D003062:Codon; D003241:Consanguinity; D005260:Female; D016368:Frameshift Mutation; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007492:Iran; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017384:Sequence Deletion; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D003062:Codon; D055544:beta-Globins