SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN CALABRIA - IMPLICATIONS FOR PRENATAL-DIAGNOSIS

被引：4

作者：

MAGRO, S ^{[1
]}

SANTILLI, E ^{[1
]}

MANCUSO, R ^{[1
]}

PUZZONIA, P ^{[1
]}

CONSARINO, C ^{[1
]}

MORGIONE, S ^{[1
]}

GALATI, MC ^{[1
]}

FERSINI, G ^{[1
]}

MADONNA, G ^{[1
]}

BRANCATI, C ^{[1
]}

VADALA, P ^{[1
]}

MOLICA, S ^{[1
]}

机构：

[1] SOVERIA MANNELLI,DIV OSTET & GINEOL,I-88100 CATANZARO,ITALY

来源：

AMERICAN JOURNAL OF HEMATOLOGY | 1995年 / 48卷 / 02期

关键词：

BETA-THALASSEMIA; PRENATAL DIAGNOSIS; CALABRIA;

D O I：

10.1002/ajh.2830480213

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Using a combination of oligonucleotide probes and restriction endonuclease enzymes, we characterize beta-thalassemic mutations in 91 homozygous patients and 86 unrelated carriers, Overall, 268 beta-thalassemic genes were obtained. Eleven beta-globin mutations were identified, confirming the wide molecular heterogeneity of beta-thalassemia in Calabria. Information from the present study represents the mainstay for the development of a program of early prenatal diagnosis by direct detection of mutations in Calabria. (C) 1995 Wiley-Liss, Inc.

引用

页码：128 / 129

页数：2

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