THE ORIGIN OF THE MAJOR CYSTIC-FIBROSIS MUTATION (DELTA-F508) IN EUROPEAN POPULATIONS

被引：282

作者：

MORRAL, N

BERTRANPETIT, J

ESTIVILL, X

NUNES, V

CASALS, T

GIMENEZ, J

REIS, A

VARONMATEEVA, R

MACEK, M

KALAYDJIEVA, L

ANGELICHEVA, D

DANCHEVA, R

ROMEO, G

RUSSO, MP

GARNERONE, S

RESTAGNO, G

FERRARI, M

MAGNANI, C

CLAUSTRES, M

DESGEORGES, M

SCHWARTZ, M

SCHWARZ, M

DALLAPICCOLA, B

NOVELLI, G

FEREC, C

DEARCE, M

NEMETI, M

KERE, T

ANVRET, M

DAHL, N

KADASI, L

机构：

[1] HOSP DURAN & REYNALS,INST RECERCA ONCOL,E-08907 BARCELONA,SPAIN

[2] UNIV BARCELONA,BARCELONA,SPAIN

[3] FREE UNIV BERLIN,W-1000 BERLIN,GERMANY

[4] CHARLES UNIV,PRAGUE,CZECH REPUBLIC

[5] UNIV SOFIA,HOSP OBSTET,BU-1126 SOFIA,BULGARIA

[6] IST GIANNINA GASLINI,I-16148 GENOA,ITALY

[7] UNIV TURIN,TURIN,ITALY

[8] IST SCI HS RAFFAELE,MILAN,ITALY

[9] INST BIOL,MONTPELLIER,FRANCE

[10] RIGSHOSP,DK-2100 COPENHAGEN,DENMARK

[11] ROYAL MANCHESTER CHILDRENS HOSP,MANCHESTER,LANCS,ENGLAND

[12] UNIV ROME,ROME,ITALY

[13] CTR BIOGENET,BREST,FRANCE

[14] UNIV DUBLIN,DUBLIN,IRELAND

[15] SEMMELWEIS UNIV MED,SCH MED,BUDAPEST,HUNGARY

[16] CHILDRENS HOSP,OAKLAND,CA 94609

[17] UNIV HELSINKI,HELSINKI,FINLAND

[18] KAROLINSKA HOSP,S-10401 STOCKHOLM,SWEDEN

[19] UNIV UPPSALA,UPPSALA,SWEDEN

[20] UNIV BRATISLAVA,BRATISLAVA,SLOVAKIA

来源：

NATURE GENETICS | 1994年 / 7卷 / 02期

关键词：

D O I：

10.1038/ng0694-169

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Delta F508 is the most frequent cystic fibrosis (CF) mutation and accounts for approximately 70% of CF chromosomes worldwide. Three highly polymorphic microsatellite markers have been used to study the origin and evolution of Delta F508 chromosomes in Europe. Haplotype data demonstrate that Delta F508 occurred more than 52,000 years ago, in a population genetically distinct from any present European group, and spread throughout Europe in chronologically distinct expansions, which are responsible for the different frequencies of Delta F508 in Europe.

引用

页码：169 / 175

页数：7

共 36 条

[1] Ammerman A.J., 1984, NEOLITHIC TRANSITION
[2] BANCHS I, IN PRESS HUMAN MUT
[3] A GENETIC RECONSTRUCTION OF THE HISTORY OF THE POPULATION OF THE IBERIAN PENINSULA
BERTRANPETIT, J
CAVALLISFORZA, LL
[J]. ANNALS OF HUMAN GENETICS, 1991, 55 : 51 - 67
[4] Boat TF., 1989, CYSTIC FIBROSIS META, V6th, P2649
[5] CASALS T, 1992, AM J HUM GENET, V50, P404
[6] CHEHAB EF, 1991, AM J HUM GENET, V48, P223
[7] Cystic Fibrosis Genetic Anal Consortium, 1990, AM J HUM GENET, V47, P354
[8] INTRAGENIC AND EXTRAGENIC MARKER HAPLOTYPES OF CFTR MUTATIONS IN CYSTIC-FIBROSIS FAMILIES
DORK, T
NEUMANN, T
WULBRAND, U
WULF, B
KALIN, N
MAASS, G
KRAWCZAK, M
GUILLERMIT, H
FEREC, C
HORN, G
KLINGER, K
KEREM, BS
ZIELENSKI, J
TSUI, LC
TUMMLER, B
[J]. HUMAN GENETICS, 1992, 88 (04) : 417 - 425
[9] ESTIVILL X, 1989, LANCET, V2, P1404
[10] ESTIVILL X, 1987, Genomics, V1, P257, DOI 10.1016/0888-7543(87)90052-8

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