Molecular basis of alpha-thalassemia in Sicily

被引:19
作者
Fichera, M
Spalletta, A
Fiorenza, F
Lombardo, T
Schiliro, G
Tamouza, R
Lapoumeroulie, C
Labie, D
Ragusa, A
机构
[1] IRCCS,IST OASI,LAB EMATOL,I-94018 TROINA,ITALY
[2] OSPED ST ELIA,CTR TALASSEMIA,CALTANISSETTA,ITALY
[3] OSPED FERRAROTTO,CTR TALASSEMIA,CATANIA,ITALY
[4] UNIV CATANIA,DIPARTIMENTO EMATOL PEDIAT,CATANIA,ITALY
[5] HOP ROBERT DEBRE,INSERM,U458,PARIS,FRANCE
[6] CHU COCHIN PORT ROYAL,ICGM,PARIS,FRANCE
关键词
D O I
10.1007/s004390050376
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
To evaluate the allelic frequency and genetic diversity of alpha-thalassemia defects in Sicily, both epidemiological and patient-oriented studies were carried out, For the epidemiological study, phenotypic data were collected on more than 1000 Sicilian individuals. Among them, 427 were explored at the molecular level for nine a-thalassemic variants known to be common in the Mediterranean region. Our data reveal an allele frequency of 4.1% for alpha(+)-thalassemia matching that of beta-thalassemia in this region. The presence of alpha degrees-thalassemia (--(MEDI) and --(CAL)) was observed only in the group of referred patients. Newly acquired nucleotide sequence data on the deletional breakpoint of --(CAL) allowed us to design a simple PCR-based procedure for exploring this allele, The data also provide additional information concerning the genetic mechanisms involved in such large deletions.
引用
收藏
页码:381 / 386
页数:6
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