ALPHA-ALPHA-ALPHA-ALPHA-ANTI-3.7 TYPE-II - A NEW ALPHA-GLOBIN GENE REARRANGEMENT SUGGESTING THAT THE ALPHA-GLOBIN GENE DUPLICATION COULD BE CAUSED BY INTRACHROMOSOMAL RECOMBINATION

被引：10

作者：

DEANGIOLETTI, M

LACERRA, G

CASTALDO, C

CUTOLO, R

DEBONIS, C

BUONANNO, G

CARESTIA, C

机构：

[1] CNR,INT INST GENET & BIOPHYS,VIA G MARCONI 10-12,I-80125 NAPLES,ITALY

[2] OSPED S GERARDO,DIV EMATOL,USL 42,NAPLES,ITALY

来源：

HUMAN GENETICS | 1992年 / 89卷 / 01期

关键词：

D O I：

10.1007/BF00207039

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report here a new human alpha-globin gene rearrangement carrying the two normal, alpha-2 and alpha-1, and two hybrid, alpha-1/alpha-2, globin genes in the order 5'-alpha-2-alpha-1/alpha-2-alpha-1/alpha-2-alpha-1-3'. Both the hybrid genes, subtyped with ApaI and RsaI restriction enzymes, were found to be of the uncommon anti 3.7 type II. The hybrid genes were expressed at the biosynthetic level and their interaction with the beta-thalassaemia IVS 1 nt 1 G --> A mutation caused thalassaemia intermedia. We also report a case of an alpha-alpha-alpha-globin gene rearrangement in the twin of one of the alpha-alpha-alpha-alpha-globin gene carriers; the duplicated gene was of the anti 4.2 type and was associated with the absence of RsaI polymorphism. The singular finding of an alpha-alpha-alpha-alpha-anti 3.7 cluster with two identical rare hybrid genes suggests that the reciprocal unequal recombination causing the alpha-globin gene rearrangements could be of the intrachromosomal rather than the interchromosomal type.

引用

页码：37 / 41

页数：5

共 25 条

[1] DETECTION OF A RESTRICTION SITE POLYMORPHISM WITHIN THE HUMAN ALPHA-GLOBIN GENE-COMPLEX [J].