MOLECULAR ANALYSIS OF ALDOLASE-B GENES IN HEREDITARY FRUCTOSE INTOLERANCE

被引：87

作者：

CROSS, NCP

DEFRANCHIS, R

SEBASTIO, G

DAZZO, C

TOLAN, DR

GREGORI, C

ODIEVRE, M

VIDAILHET, M

ROMANO, V

MASCALI, G

ROMANO, C

MUSUMECI, S

STEINMANN, B

GITZELMANN, R

COX, TM

机构：

[1] INST MOLEC PATHOL,PARIS,FRANCE

[2] HOP ANTOINE BECLERE,CLAMART,FRANCE

[3] UNIV CATANIA,INST RES MENTAL RETARDAT & CEREBRAL DEV,I-95124 CATANIA,ITALY

[4] ROYAL POSTGRAD MED SCH,DEPT HAEMATOL,LONDON W12 0HS,ENGLAND

[5] ROYAL POSTGRAD MED SCH,DEPT MED,LONDON W12 0HS,ENGLAND

[6] NAPLES UNIV,DEPT PAEDIAT,I-80138 NAPLES,ITALY

[7] BOSTON UNIV,CTR BIOL SCI,BOSTON,MA 02215

[8] CTR HOSP REG UNIV NANCY,VANDOEUVRE NANCY,FRANCE

[9] UNIV CATANIA,DEPT PAEDIAT,I-95124 CATANIA,ITALY

[10] UNIV ZURICH,DEPT PAEDIAT,CH-8006 ZURICH,SWITZERLAND

来源：

LANCET | 1990年 / 335卷 / 8685期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1016/0140-6736(90)90603-3

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The molecular basis of hereditary fructose intolerance (HFI) was studied in 50 subjects (41 pedigrees, 82 apparently independent mutant alleles of aldolase B) by direct analysis of aldolase B genes amplified by means of the polymerase chain reaction. The mutation A149P (ala 149→ pro) was found in 67% of alleles but was significantly more common in patients from northern than from southern Europe. Two other point mutations of aldolase B were identified. A174D (C→A; ala 174→ asp) was found in subjects from Italy, Switzerland, and Yugoslavia (overall frequency 16%) but not in those from the United Kingdom, France, or the United States. L288ΔC carried a single base-pair deletion causing frameshift at codon 288 and was restricted to Sicilian subjects. By testing for these mutations in amplified DNA with a limited panel of allele-specific oligonucleotides, more than 95% of HFI patients will be susceptible to genetic diagnosis. © 1990.

引用

页码：306 / 309

页数：4