Haplotypes of microsatellite markers of the CFTR gene in Polish and German CF chromosomes suggest an ancient origin of the most frequent cystic fibrosis mutations

• Autorzy: Witt M , Varon-Mateeva R , Reis A , Rutkiewicz E
• Języki publikacji: EN

Abstrakty

EN

In this study we have analysed haplotypes of microsatellite markers of the CFTR gene: IVS8CA, IVS17BTA, IVS17BCA in 17 CF chromosomes of Polish origin and in 19 chromosomes of German origin bearing CF mutations other than ΔF508. In the Polish population, the G542X mutation is connected with haplotypes 16/17-28/32/38-13; in the German population, a more diverse haplotype association has been detected (23-33-13 and 16-32-13). The 1717-1G->A mutation is associated with the 15/16-7-13 haplotype in the Polish population, like the G551D mutation in Germany. The only analysed case of N1303K of Polish origin is connected with the 23-30-13 haplotype, like in the German population. One N1303K chromosome of an entirely different haplotype (16-29-17) turned out to be of Greek origin. These data suggest an ancient, Palaeolithic or Neolithic origin of these mutations in the territory of current Northern Europe.

Słowa kluczowe

EN

microsatellite marker; chromosome; haplotype; German population; Polish population; autoradiography; Paleolithic origin; mutation; cystic fibrosis; Neolithic origin

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 1997
• Tom: 38
• Numer: 3
• Opis fizyczny: p.329-334

Twórcy

autor

Witt M

• Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland

autor

Varon-Mateeva R

• Institute of Human Genetics, Virchow's Clinic, Berlin, Germany

autor

Reis A

• Institute of Human Genetics, Virchow's Clinic, Berlin, Germany

autor

Rutkiewicz E

• Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland

Bibliografia

• Bal J., Maciejko D., Mazurczak T., Potocka A., Krawczak M., Reiss J. (1991). Frequency of the cystic fibrosis mutation ΔF508 in Poland. Hum. Genet. 86: 329.
• Cystic Fibrosis Genetic Analysis Consortium (1994). Population variation of common cystic fibrosis mutations. Hum. Mutat. 4: 167-177.
• Maciejko D., Bal J., Mazurczak T., Meerman G., Busy C., Oostra B., Halley D. (1989). Different haplotypcs for cystic fibrosis-linked DNA polymorphisms in the Polish and Dutch populations. Hum. Genet. 83: 220-222.
• Magnani C., Cremonesi L., Belloni E., Ferrari M., Seia M., Russo M.P., Devoto M., Ronchettip P., Romeo G. (1994). Informativity of intragenic microsatellites for carrier detection and prenatal diagnosis of cystic fibrosis in the Italian population. Clin. Genet. 45: 135-139.
• Mornet E., Chateau C., Simon-Bouy B., Boue J., Zielenski J., Tsui L-С., Boue A. (1992). Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism. Hum. Genet. 88: 479-481.
• Morral N., Bertranpetit J., Estivill X., Nunes V., Casals T., Gimenez J., Reis A., Varon-Mateeva R., Macek M., Kalaydijeva L., Angelicheva D., Dancheva R., Romeo G., Russo M.P., Garnerone S., Restagno G., Ferrari M., Magnani C., Claustres M., Desgeorges M„ Schwartz M., Schwarz M., Dallapicola B., Novelli G., Ferec C., de Arce M., Nemeti M., Kere J., Anvret M., Dahl N., Kadasi L. (1994). The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nature Genet. 7: 169-175.
• Morral N., Estivill X. (1992). Multiplex PCR amplification of three microsatellites within the CFTR gene. Genomics 13: 1362-1364.
• Morral N., Girbau E., Zielenski J., Nunes V., Casals T., Tsui L-С., Estivill X. (1991). Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum. Genet. 88: 356.
• Morral N., Nunes V., Casals T., Chillon M., Gimenez J., Bertranpetit J., Estivill X. (1993). Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers. Hum. Molec. Genet. 2: 1015-1022.
• Schwartz M., Sörensen N., Brandt N.J., Hogdall E., Holm T. (1995). High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study. Hum. Genet. 95: 703-706.
• Todd J. A. (1992). La carte des microsatellites est arrivée! Hum. Mol. Genet. 1: 663-666.
• Weber J.L. (1990). Human DNA polymorphisms based on length variations in simple sequence tandem repeats. In: Genome Analysis Vol. 1: Genetic and Physical Mapping (Davies K.E., Tilghman S.M., eds.). Cold Spring Harbor Laboratory Press, New York: 159-181.
• Welsh M., Tsui L-С., Boat T.F., Beaudet A.L. (1995). Cystic fibrosis. In: The Metabolic and Molecular Bases of Inherited Disease (Scriver C.L., Beaudet A.L., Sly W.S., Valle D., eds.). McGraw-Hill, 7th edn. New York: 3799-3876.
• Witt M., Reis A., Cichy W., Dziechciowska K. (1996). Microsatcllite haplotypes of Polish cystic Fibrosis alleles: ΔF508 chromosomes demonstrate a North-South haplotype frequency gradient. Hum. Hered. 46: 310-314.
• Zielenski J., Markiewicz D., Rinnisland F., Rommens J., Tsui L-C. (1991). A cluster of highly polymorphic dinucleotide repeats in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Am. J. Hum. Genet. 49: 1256-1262.