Geographic distribution and origin of CFTR mutations in Germany
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Geographic distribution and origin of CFTR mutations in Germany. / Tümmler, B; Storrs, T; Dziadek, V; Dörk, T; Meitinger, T; Golla, A; Bertele-Harms, R M; Harms, H K; Schröder, E; Claass, A; Rutjes, J; Schneppenheim, R; Bauer, I; Breuel, K; Stuhrmann, M; Schmidtke, J; Lindner, M; Eigel, A; Horst, J; Kaiser, R; Lentze, M J; Schmidt, K; von der Hardt, H; Estivill, X.
In: HUM GENET, Vol. 97, No. 6, 01.06.1996, p. 727-31.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Geographic distribution and origin of CFTR mutations in Germany
AU - Tümmler, B
AU - Storrs, T
AU - Dziadek, V
AU - Dörk, T
AU - Meitinger, T
AU - Golla, A
AU - Bertele-Harms, R M
AU - Harms, H K
AU - Schröder, E
AU - Claass, A
AU - Rutjes, J
AU - Schneppenheim, R
AU - Bauer, I
AU - Breuel, K
AU - Stuhrmann, M
AU - Schmidtke, J
AU - Lindner, M
AU - Eigel, A
AU - Horst, J
AU - Kaiser, R
AU - Lentze, M J
AU - Schmidt, K
AU - von der Hardt, H
AU - Estivill, X
PY - 1996/6/1
Y1 - 1996/6/1
N2 - The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas. The major mutation. delta F508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%), G551D (0.8%) and R347P (0.8%). According to the grandparents' birthplace, 74% of CF chromosomes had their origin in Germany; the delta F508 percentage was 77%, 75%, 70% and 62% in northern, southern, western and eastern Germany, respectively. Ten or more mutant alleles in the investigated CF gene pool originated from Austria, the Czech Republic, Poland, Russia, Turkey and the Ukraine. This widespread geographic origin of CFTR mutations in today's Germany reflects the many demographic changes and migrations in Central Europe during the 20th century.
AB - The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas. The major mutation. delta F508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%), G551D (0.8%) and R347P (0.8%). According to the grandparents' birthplace, 74% of CF chromosomes had their origin in Germany; the delta F508 percentage was 77%, 75%, 70% and 62% in northern, southern, western and eastern Germany, respectively. Ten or more mutant alleles in the investigated CF gene pool originated from Austria, the Czech Republic, Poland, Russia, Turkey and the Ukraine. This widespread geographic origin of CFTR mutations in today's Germany reflects the many demographic changes and migrations in Central Europe during the 20th century.
KW - Cystic Fibrosis
KW - Cystic Fibrosis Transmembrane Conductance Regulator
KW - Europe
KW - Family
KW - Female
KW - Genetic Testing
KW - Genotype
KW - Germany
KW - Humans
KW - Male
KW - Mutation
KW - Population Dynamics
KW - Turkey
M3 - SCORING: Journal article
C2 - 8641688
VL - 97
SP - 727
EP - 731
JO - HUM GENET
JF - HUM GENET
SN - 0340-6717
IS - 6
ER -