Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis

Je, Spence; Gj, Buffone; Cl, Rosenbloom; Sd, Fernbach; Mr, Curry; R, Carpenter; Dh, Ledbetter; We, O'Brien; Beaudet, A. L.

doi:10.1007/bf00283042

Cited by 30 publications

(13 citation statements)

References 16 publications

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“…DNA was extracted from EDTA-peripheral blood lymphocytes from probands (n = 8), parents (n = 16) and siblings (n = 7) using previously described methods (Spence et al 1987). A 7.5-lag sample of genomic DNA was digested with the appropriate restriction endonuclease, subjected to electrophoresis on a 0.8% agarose gel and transferred to a nylon filter (Nytran, Schleicher and Schuell, Keene, N.H.) according to the method of Southern (1975).…”

Section: N a Analysesmentioning

confidence: 99%

A molecular genetic approach to the identification of isochromosomes of chromosome 21

Shaffer

et al. 1991

Hum Genet

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The largest class of de novo chromosomal rearrangements in Down syndrome are rea(21q21q). Classically, these rearrangements have been termed Robertsonian translocations, implying an attachment of two different chromosome 21 homologues. Additionally, a Robertsonian translocation between two chromosomes 21 cannot be distinguished from an isochromosome composed of genetically identical arms by cytogenetic analyses. Therefore, we have used molecular techniques to differentiate between true Robertsonian translocations and isochromosomes. Samples were obtained from 12 probands, ascertained for de novo rearrangements between homologous chromosomes 21 [11 rea(21q21q) and 1 rea (21;21)(q22;q22)], their parents (n = 24) and available siblings (n = 7). The parental origins of the de novo rearrangements were assigned using molecular and cytogenetic analyses. Although not statistically significant, there was a two-fold increase in the number of paternally derived de novo rearrangements (n = 8) as compared with maternally derived rearrangements (n = 4). To distinguish between rob(21q21q) and i(21q), we used restriction fragment length polymorphisms (RFLPs) spanning the length of chromosome 21. Using all informative and partially informative RFLPs, we used the method of maximum likelihood to assign the most likely rearrangement definition (i or rob) and parental origin in each family. The maximum likelihood estimates indicated that all rearrangements tested (n = 8) were isochromosomes. C-banding revealed two centromeres in three cases indicating that a U-type exchange occurred between sister chromatids in these rearrangements. Our results suggest that the majority of de novo rea(21q21q) are isochromosomes derived from a single parental chromosome 21.

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Section: N a Analysesmentioning

confidence: 99%

A molecular genetic approach to the identification of isochromosomes of chromosome 21

Shaffer

et al. 1991

Hum Genet

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“…In particular the analysis of DMD and CF in families with history for disease illustrates that informative DNA polymorphisms can be used to eliminate carrier risk or to make prenatal determinations (13, 40,96). In each of these studies multiple DNA probes and family members were analyzed to enable each diagnosis.…”

Section: Southern Analysismentioning

confidence: 99%

The Application Of Recombinant DNA Technology For Genetic Probing In Epidemiology

Gibbs¹

1989

Annual Review of Public Health

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“…Over 98% of families are now fully informative for DNA analysis using the widely available DNA markers Beaudet et al, 19881. The general status of prenatal diagnosis for CF, including the use of microvillar intestinal enzyme analysis (MIE), has been reviewed recently [Boub et al, 1986;Farrall et al, 1986;Beaudet and Buffone, 1987;Spence et al, 1987;Beaudet et al, 1988;Brock et al, 1988;Buffone et al, 19881. Previously, we reported our experience with molecular prenatal diagnosis of CF in 31 families at 1-in-4 recurrence risk [Spence et al, 19871.…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at l‐in‐4 risk

et al. 1989

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Prenatal diagnosis was carried out in 138 pregnancies at 1-in-4 risk for cystic fibrosis (CF) by using closely linked DNA markers, including XV-2c and KM-19. In fully informative families, 25 of 123 (20%) fetuses were predicted to be affected; 16 of these 25 pregnancies were terminated and 9 were continued. Postnatal sweat tests are completed in 42 cases; the diagnoses were confirmed in 4 of 4 infants predicted to be affected and in 37 of 38 infants predicted to be unaffected. One infant predicted to be a carrier had an abnormal sweat test after birth, but the mother also had an abnormal sweat test, and there was no evidence of an error in linkage analysis. The data indicate that prenatal diagnosis using linkage analysis is fully informative in most families and is highly reliable with either chorionic villus sampling or amniocentesis. Although outcome data are available on only 42 pregnancies, based on our experience, on general principles of linkage analysis, and on the tight linkage of the known DNA markers with CF, we recommend that DNA analysis replace microvillar intestinal enzyme analysis for 1-in-4 risk pregnancies when DNA is available from the propositus.

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Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis

Cited by 30 publications

References 16 publications

A molecular genetic approach to the identification of isochromosomes of chromosome 21

A molecular genetic approach to the identification of isochromosomes of chromosome 21

The Application Of Recombinant DNA Technology For Genetic Probing In Epidemiology

Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at l‐in‐4 risk

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