Journal ArticleDOI
Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker
Lap-Chee Tsui,Manuel Buchwald,D. Barker,Jeffrey C. Braman,Robert G. Knowlton,James W. Schumm,Hans Eiberg,Jan Mohr,Dara Kennedy,Natasa Plavsic,Martha Zsiga,Danuta Markiewicz,Gita Akots,Valerie K. Brown,Cynthia Helms,Thomas C. Gravius,Carol A. Parker,Kenneth S. Rediker,Helen Donis-Keller +18 more
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TLDR
The discovery of a linked DNA polymorphism is the first step in molecular analysis of the CF gene and its causative role in the disease.Abstract:
A polymorphic DNA marker has been found genetically linked, in a set of 39 human families, to an autosomal recessive gene that causes cystic fibrosis (CF), a disease affecting one in 2000 Caucasian children. The DNA marker (called D0CRI-917) is also linked to the PON locus, which by independent evidence is linked to the CF locus. The best estimates of the genetic distances are 5 centimorgans between the DNA marker and PON and 15 centimorgans between the DNA marker and the CF locus, meaning that the location of the disease gene has been narrowed to about 1 percent of the human genome (about 30 million base pairs). Although the data are consistent with the interpretation that a single locus causes cystic fibrosis, the possibility of genetic heterogeneity remains. The discovery of a linked DNA polymorphism is the first step in molecular analysis of the CF gene and its causative role in the disease.read more
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Identification of the cystic fibrosis gene: genetic analysis.
Batsheva Kerem,Johanna M. Rommens,Janet A. Buchanan,Danuta Markiewicz,Tara K. Cox,Aravinda Chakravarti,Manuel Buchwald,Lap-Chee Tsui +7 more
TL;DR: Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations.
Journal ArticleDOI
Identification of the cystic fibrosis gene: Chromosome walking and jumping
Johanna M. Rommens,Michael C. Iannuzzi,Batsheva Kerem,Mitchell L. Drumm,Georg Melmer,Michael Dean,Richard Rozmahel,Jeffery L. Cole,Dara Kennedy,Noriko Hidaka,Martha Zsiga,Manuel Buchwald,John R. Riordan,Lap-Chee Tsui,Francis S. Collins +14 more
TL;DR: Several transcribed sequences and conserved segments were identified in this cloned region and one corresponds to the cystic fibrosis gene and spans approximately 250,000 base pairs of genomic DNA.
Journal ArticleDOI
Variable number of tandem repeat (VNTR) markers for human gene mapping
Yusuke Nakamura,Mark Leppert,Peter O'Connell,Roger K. Wolff,Tom Holm,Melanie Culver,Cindy Martin,Esther Fujimoto,Mark Hoff,Erika Kumlin,Ray White +10 more
TL;DR: Ten oligomeric sequences derived from the tandem repeat regions of the myoglobin gene, the zeta-globin pseudogene, the insulin gene, and the X-gene region of hepatitis B virus were used to develop a series of single-copy probes that revealed new, highly polymorphic genetic loci whose allele sizes reflected variation in the number of tandem repeats.
Journal ArticleDOI
Lung Infections Associated with Cystic Fibrosis
Jeffrey B. Lyczak,Carolyn L. Cannon,Carolyn L. Cannon,Carolyn L. Cannon,Gerald B. Pier,Gerald B. Pier +5 more
TL;DR: As the modalities of CF research have changed over the decades from empirical histological studies to include biophysical measurements of CFTR function, the clinical management of this disease has similarly evolved to effectively address the ever-changing spectrum of CF-related infectious diseases.
Journal ArticleDOI
High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones.
Peter Lichter,Chieh-Ju Chang Tang,Katherine M. Call,Gary G. Hermanson,Glen A. Evans,David E. Housman,David C. Ward +6 more
TL;DR: The results demonstrate the feasibility of rapidly producing high-resolution maps of human chromosomes by in situ hybridization and show that by hybridizing three or more cosmids simultaneously, gene order on the chromosome could be established unequivocally.
References
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