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A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases
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| Zeitschriftentitel: | Human Molecular Genetics |
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| Personen und Körperschaften: | , , , , , , , , , , , , , , , , |
| In: | Human Molecular Genetics, 12, 2003, 18, S. 2321-2332 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Oxford University Press (OUP)
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| Schlagwörter: |
| author_facet |
Lee, Ji Hyun Choi, Ji Ha Namkung, Wan Hanrahan, John W. Chang, Joon Song, Si Young Park, Seung Woo Kim, Dong Soo Yoon, Joo-Heon Suh, Yousin Jang, In-Jin Nam, Joo Hyun Kim, Sung Joon Cho, Mi-Ook Lee, Jong-Eun Kim, Kyung Hwan Lee, Min Goo Lee, Ji Hyun Choi, Ji Ha Namkung, Wan Hanrahan, John W. Chang, Joon Song, Si Young Park, Seung Woo Kim, Dong Soo Yoon, Joo-Heon Suh, Yousin Jang, In-Jin Nam, Joo Hyun Kim, Sung Joon Cho, Mi-Ook Lee, Jong-Eun Kim, Kyung Hwan Lee, Min Goo |
|---|---|
| author |
Lee, Ji Hyun Choi, Ji Ha Namkung, Wan Hanrahan, John W. Chang, Joon Song, Si Young Park, Seung Woo Kim, Dong Soo Yoon, Joo-Heon Suh, Yousin Jang, In-Jin Nam, Joo Hyun Kim, Sung Joon Cho, Mi-Ook Lee, Jong-Eun Kim, Kyung Hwan Lee, Min Goo |
| spellingShingle |
Lee, Ji Hyun Choi, Ji Ha Namkung, Wan Hanrahan, John W. Chang, Joon Song, Si Young Park, Seung Woo Kim, Dong Soo Yoon, Joo-Heon Suh, Yousin Jang, In-Jin Nam, Joo Hyun Kim, Sung Joon Cho, Mi-Ook Lee, Jong-Eun Kim, Kyung Hwan Lee, Min Goo Human Molecular Genetics A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases Genetics (clinical) Genetics Molecular Biology General Medicine |
| author_sort |
lee, ji hyun |
| spelling |
Lee, Ji Hyun Choi, Ji Ha Namkung, Wan Hanrahan, John W. Chang, Joon Song, Si Young Park, Seung Woo Kim, Dong Soo Yoon, Joo-Heon Suh, Yousin Jang, In-Jin Nam, Joo Hyun Kim, Sung Joon Cho, Mi-Ook Lee, Jong-Eun Kim, Kyung Hwan Lee, Min Goo 1460-2083 0964-6906 Oxford University Press (OUP) Genetics (clinical) Genetics Molecular Biology General Medicine http://dx.doi.org/10.1093/hmg/ddg243 <jats:title>Abstract</jats:title> <jats:p>Aberrant membrane transport caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene is associated with a wide spectrum of respiratory and digestive diseases as well as cystic fibrosis. Using a gene scanning method, we found 11 polymorphisms and mutations of the CFTR gene in the Korean population. Individual variants at these sites were analyzed by conventional DNA screening in 117 control and 75 patients having bronchiectasis or chronic pancreatitis. In a haplotype determination based on a Bayesian algorithm, 15 haplotypes were assembled in the 192 individuals tested. Several haplotypes, especially with Q1352H, IVS8 T5, and E217G, were found to have disease associations in a case–control study. Notably, a common polymorphism of M470V appears to affect the intensity of the disease association. Among the two haplotypes having IVS8 T5, the T5-V470 haplotype showed higher disease association than the T5-M470 haplotype. In addition, a Q1352H mutation found in a V470 background showed the strongest disease association. The physiological significances of the identified mutations were rigorously analyzed. Non-synonymous E217G and Q1352H mutations in the M470 background caused a 60–80% reduction in CFTR-dependent Cl− currents and HCO3−-transport activities. Surprisingly, the additional M470V polymorphic variant with the Q1352H mutation completely abolished CFTR-dependent anion transport activities. These findings provide the first evidence on the importance of CFTR mutations in the Asian population. Importantly, the results also reveal that interactions between multiple genetic variants in cis affect the final function of the gene products.</jats:p> A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases Human Molecular Genetics |
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| title |
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases |
| title_unstemmed |
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases |
| title_full |
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases |
| title_fullStr |
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases |
| title_full_unstemmed |
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases |
| title_short |
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases |
| title_sort |
a haplotype-based molecular analysis of cftr mutations associated with respiratory and pancreatic diseases |
| topic |
Genetics (clinical) Genetics Molecular Biology General Medicine |
| url |
http://dx.doi.org/10.1093/hmg/ddg243 |
| publishDate |
2003 |
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2321-2332 |
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<jats:title>Abstract</jats:title>
<jats:p>Aberrant membrane transport caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene is associated with a wide spectrum of respiratory and digestive diseases as well as cystic fibrosis. Using a gene scanning method, we found 11 polymorphisms and mutations of the CFTR gene in the Korean population. Individual variants at these sites were analyzed by conventional DNA screening in 117 control and 75 patients having bronchiectasis or chronic pancreatitis. In a haplotype determination based on a Bayesian algorithm, 15 haplotypes were assembled in the 192 individuals tested. Several haplotypes, especially with Q1352H, IVS8 T5, and E217G, were found to have disease associations in a case–control study. Notably, a common polymorphism of M470V appears to affect the intensity of the disease association. Among the two haplotypes having IVS8 T5, the T5-V470 haplotype showed higher disease association than the T5-M470 haplotype. In addition, a Q1352H mutation found in a V470 background showed the strongest disease association. The physiological significances of the identified mutations were rigorously analyzed. Non-synonymous E217G and Q1352H mutations in the M470 background caused a 60–80% reduction in CFTR-dependent Cl− currents and HCO3−-transport activities. Surprisingly, the additional M470V polymorphic variant with the Q1352H mutation completely abolished CFTR-dependent anion transport activities. These findings provide the first evidence on the importance of CFTR mutations in the Asian population. Importantly, the results also reveal that interactions between multiple genetic variants in cis affect the final function of the gene products.</jats:p> |
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| author | Lee, Ji Hyun, Choi, Ji Ha, Namkung, Wan, Hanrahan, John W., Chang, Joon, Song, Si Young, Park, Seung Woo, Kim, Dong Soo, Yoon, Joo-Heon, Suh, Yousin, Jang, In-Jin, Nam, Joo Hyun, Kim, Sung Joon, Cho, Mi-Ook, Lee, Jong-Eun, Kim, Kyung Hwan, Lee, Min Goo |
| author_facet | Lee, Ji Hyun, Choi, Ji Ha, Namkung, Wan, Hanrahan, John W., Chang, Joon, Song, Si Young, Park, Seung Woo, Kim, Dong Soo, Yoon, Joo-Heon, Suh, Yousin, Jang, In-Jin, Nam, Joo Hyun, Kim, Sung Joon, Cho, Mi-Ook, Lee, Jong-Eun, Kim, Kyung Hwan, Lee, Min Goo, Lee, Ji Hyun, Choi, Ji Ha, Namkung, Wan, Hanrahan, John W., Chang, Joon, Song, Si Young, Park, Seung Woo, Kim, Dong Soo, Yoon, Joo-Heon, Suh, Yousin, Jang, In-Jin, Nam, Joo Hyun, Kim, Sung Joon, Cho, Mi-Ook, Lee, Jong-Eun, Kim, Kyung Hwan, Lee, Min Goo |
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| description | <jats:title>Abstract</jats:title> <jats:p>Aberrant membrane transport caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene is associated with a wide spectrum of respiratory and digestive diseases as well as cystic fibrosis. Using a gene scanning method, we found 11 polymorphisms and mutations of the CFTR gene in the Korean population. Individual variants at these sites were analyzed by conventional DNA screening in 117 control and 75 patients having bronchiectasis or chronic pancreatitis. In a haplotype determination based on a Bayesian algorithm, 15 haplotypes were assembled in the 192 individuals tested. Several haplotypes, especially with Q1352H, IVS8 T5, and E217G, were found to have disease associations in a case–control study. Notably, a common polymorphism of M470V appears to affect the intensity of the disease association. Among the two haplotypes having IVS8 T5, the T5-V470 haplotype showed higher disease association than the T5-M470 haplotype. In addition, a Q1352H mutation found in a V470 background showed the strongest disease association. The physiological significances of the identified mutations were rigorously analyzed. Non-synonymous E217G and Q1352H mutations in the M470 background caused a 60–80% reduction in CFTR-dependent Cl− currents and HCO3−-transport activities. Surprisingly, the additional M470V polymorphic variant with the Q1352H mutation completely abolished CFTR-dependent anion transport activities. These findings provide the first evidence on the importance of CFTR mutations in the Asian population. Importantly, the results also reveal that interactions between multiple genetic variants in cis affect the final function of the gene products.</jats:p> |
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| spelling | Lee, Ji Hyun Choi, Ji Ha Namkung, Wan Hanrahan, John W. Chang, Joon Song, Si Young Park, Seung Woo Kim, Dong Soo Yoon, Joo-Heon Suh, Yousin Jang, In-Jin Nam, Joo Hyun Kim, Sung Joon Cho, Mi-Ook Lee, Jong-Eun Kim, Kyung Hwan Lee, Min Goo 1460-2083 0964-6906 Oxford University Press (OUP) Genetics (clinical) Genetics Molecular Biology General Medicine http://dx.doi.org/10.1093/hmg/ddg243 <jats:title>Abstract</jats:title> <jats:p>Aberrant membrane transport caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene is associated with a wide spectrum of respiratory and digestive diseases as well as cystic fibrosis. Using a gene scanning method, we found 11 polymorphisms and mutations of the CFTR gene in the Korean population. Individual variants at these sites were analyzed by conventional DNA screening in 117 control and 75 patients having bronchiectasis or chronic pancreatitis. In a haplotype determination based on a Bayesian algorithm, 15 haplotypes were assembled in the 192 individuals tested. Several haplotypes, especially with Q1352H, IVS8 T5, and E217G, were found to have disease associations in a case–control study. Notably, a common polymorphism of M470V appears to affect the intensity of the disease association. Among the two haplotypes having IVS8 T5, the T5-V470 haplotype showed higher disease association than the T5-M470 haplotype. In addition, a Q1352H mutation found in a V470 background showed the strongest disease association. The physiological significances of the identified mutations were rigorously analyzed. Non-synonymous E217G and Q1352H mutations in the M470 background caused a 60–80% reduction in CFTR-dependent Cl− currents and HCO3−-transport activities. Surprisingly, the additional M470V polymorphic variant with the Q1352H mutation completely abolished CFTR-dependent anion transport activities. These findings provide the first evidence on the importance of CFTR mutations in the Asian population. Importantly, the results also reveal that interactions between multiple genetic variants in cis affect the final function of the gene products.</jats:p> A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases Human Molecular Genetics |
| spellingShingle | Lee, Ji Hyun, Choi, Ji Ha, Namkung, Wan, Hanrahan, John W., Chang, Joon, Song, Si Young, Park, Seung Woo, Kim, Dong Soo, Yoon, Joo-Heon, Suh, Yousin, Jang, In-Jin, Nam, Joo Hyun, Kim, Sung Joon, Cho, Mi-Ook, Lee, Jong-Eun, Kim, Kyung Hwan, Lee, Min Goo, Human Molecular Genetics, A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases, Genetics (clinical), Genetics, Molecular Biology, General Medicine |
| title | A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases |
| title_full | A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases |
| title_fullStr | A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases |
| title_full_unstemmed | A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases |
| title_short | A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases |
| title_sort | a haplotype-based molecular analysis of cftr mutations associated with respiratory and pancreatic diseases |
| title_unstemmed | A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases |
| topic | Genetics (clinical), Genetics, Molecular Biology, General Medicine |
| url | http://dx.doi.org/10.1093/hmg/ddg243 |