Characterization of a new polymorphism, IVS-I-108 (T-->C), and a new beta-thalassemia mutation, -27 (A-->T), discovered in the course of a prenatal diagnosis.
We report two new substitutions, IVS-I-108 (T-->C) and -27 (A-->T), identified in a couple at risk for beta-thalassemia. One is of Iranian origin and presents with two mutations: a new substitution of T-->C at nucleotide IVS-I-108, which is a silent polymorphism, and a previously described beta-thalassemia mutation at nucleotide -28 (A-->C). The other is from the island of Corsica, the only place in France where beta-thalassemia is endemic. He presents a new substitution of A-->T at nucleotide -27 in the TATA box, which was also found in several members of his family with the beta-thalassemia trait. The fetus was found to have inherited both these novel mutations.
Badens
C
C
Laboratoire des Hémoglobines, CERGM, Faculté de Médecine, Marseille, France. badens@medecine.univ-mrs.fr
Jassim
N
N
Martini
N
N
Mattei
J F
JF
Elion
J
J
Lena-Russo
D
D
D005260:Female; D005602:France / Q000208:ethnology; D006801:Humans; D007492:Iran / Q000208:ethnology; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011296:Prenatal Diagnosis; D012307:Risk Factors; D017086:beta-Thalassemia / Q000235:genetics*