EXPANSION OF THE MYOTONIC-DYSTROPHY GENE IN ITALIAN AND SPANISH PATIENTS

被引：11

作者：

MELCHIONDA, S

COBO, A

GENNARELLI, M

MARTORELL, L

FATTORINI, C

BAIGET, M

DEMUNAIN, AL

JOHNSON, K

SHELBOURNE, P

NOVELLI, G

DALLAPICCOLA, B

机构：

[1] HOSP SANTA CRUZ & SAN PABLO,MOLEC GENET UNIT,BARCELONA,SPAIN

[2] HOSP NTRA SRA ARANZAZU,SAN SEBASTIAN,SPAIN

[3] CHARING CROSS & WESTMINSTER MED SCH,DEPT ANAT,LONDON,ENGLAND

[4] CSS HOSP,SAN GIOVANNI ROTO,ITALY

[5] TOR VERGATA UNIV,DEPT HUMAN GENET,ROME,ITALY

[6] UNIV URBINO,I-61029 URBINO,ITALY

来源：

JOURNAL OF MEDICAL GENETICS | 1992年 / 29卷 / 11期

关键词：

D O I：

10.1136/jmg.29.11.789

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Myotonic dystrophy results from expansion of a (CTG)n repeat at the 3' untranslated region of the myotonin-protein kinase gene. We show here the genomic analysis of 322 symptomatic patients with the cDNA-25 probe detecting disease specific EcoRI restriction fragments. The expansion was found in the majority of Italian and Spanish patients (92%). The implications of these results for the detection of symptomatic patients in southern Europe are discussed.

引用

页码：789 / 790

页数：2

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