Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping

Rommens, Johanna M.; Iannuzzi, Michael C.; Kerem, Bat Sheva; Drumm, Mitchell L.; Melmer, Georg; Dean, Michael; Rozmahel, Richard; Cole, Jeffery L.; Kennedy, D; Hidaka, Noriaki; Zsiga, Martha; Buchwald, Manuel; Riordan, John R.; Tsui, Lap Chee; Collins, Francis S.

doi:10.1126/science.2772657

Cited by 2,894 publications

(877 citation statements)

References 49 publications

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“…CF affects respiratory, gastrointestinal/digestive, reproductive as well as other systems and, although there is yet no cure, a range of treatments, especially those aimed at reducing the malnutrition (Southern et al 2009), have resulted in increased life expectancies (Dodge et al 2007;O'Sullivan and Freedman 2009). Identification of the CFTR gene associated with CF in 1989 Rommens et al 1989;Riordan et al 1989) led to the introduction of newborn screening in a number of countries. It also prompted debate about the value of offering population carrier screening for this condition (with views that primary care is an appropriate clinical setting (Modell 1993)), vs. cascade screening in families (Wilfond and Fost 1990;Williamson 1993).…”

Section: Carrier Screening For Cystic Fibrosismentioning

confidence: 99%

Carrier screening in preconception consultation in primary care

Metcalfe

2011

J Community Genet

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Discussing carrier screening during preconception consultation in primary care has a number of advantages in terms of promoting autonomy and enabling the greatest range of reproductive choices. For those with a family history of an inherited condition, this ought to be a routine discussion; however, this can be expanded to include the wider population, especially for those conditions for which carrier frequencies are considered relatively common. There is published literature from around the world regarding experiences with carrier screening in primary care for cystic fibrosis, haemoglobinopathies, fragile X syndrome, Tay-Sachs disease and spinal muscular atrophy, although many of these have tended to focus on consultations during rather than before pregnancy. Overall, these studies reveal that population carrier screening is well received by the participants with apparent minimal psychosocial harms; however, challenges exist in terms of approaches to ensure couples receive adequate information to make personally relevant decisions and for ongoing health professional engagement.

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Section: Carrier Screening For Cystic Fibrosismentioning

confidence: 99%

Carrier screening in preconception consultation in primary care

Metcalfe

2011

J Community Genet

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“…The consequent proliferation of linkage studies required computationally efficient methods for genome-wide statistical analysis and fostered the growth of the field of statistical genetics. The difficulty of isolating the first mapped genes [18][19][20] spurred the development of physical maps and the adaptation of linkage disequilibrium (LD) analysis (previously a tool for basic population genetics) for finescale mapping 20,21 .…”

Section: Appropriate Technology and Statistics For Each Approachmentioning

confidence: 99%

The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology

2004

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Efforts to identify gene variants associated with susceptibility to common diseases use three approaches: pedigree and affected sib-pair linkage studies and association studies of population samples. The different aims of these study designs reflect their derivation from biological versus epidemiological traditions. Similar principles regarding determination of the evidence levels required to consider the results statistically significant apply to both linkage and association studies, however. Such determination requires explicit attention to the prior probability of particular findings, as well as appropriate correction for multiple comparisons. For most common diseases, increasing the sample size in a study is a crucial step in achieving statistically significant genetic mapping results. Recent studies suggest that the technology and statistical methodology will soon be available to make wellpowered studies feasible using any of these approaches.

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“…13 The mapping indicates that yCFTR contains the 230 kb human CFTR gene, flanked by about was either not expressed 4,5 or expressed in cells where the normal CFTR transcript is not detectable. 3 Similar 50 kb of human genomic DNA on the 5′ side and 5-10 kb on the 3′ side.…”

Section: Abstract: Cftr ; Yac; Expressionmentioning

confidence: 99%