Literature DB >> 6483785

Improved direct molecular diagnosis and rapid fetal sexing.

D I Hoar, D B Haslam, D M Starozik.   

Abstract

Adaptations of the techniques of modern molecular biology to prenatal diagnosis has opened new avenues for the detection of genetic diseases. We have taken advantage of the rapid adhesion of colony forming cells in cultured amniotic fluid samples to develop an improved method for molecular diagnosis. By employing the cell adherence regime sickle cell diagnosis using Mst II can be undertaken directly. In addition, hybridization with a cloned repetitive sequence that is of Y origin and has limited autosomal homology permits rapid fetal sexing in 3 to 4 days without compromising conventional cytogenetic or biochemical analysis. This combination of techniques provides a useful adjunct to convential prenatal genetic diagnosis in the second trimester.

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Year:  1984        PMID: 6483785     DOI: 10.1002/pd.1970040402

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  9 in total

1.  Exaggerated triglyceride accretion in human preadipocyte-murine renal line hybrids composed of cells from massively obese subjects.

Authors:  P E Le Blanc; D A Roncari; D I Hoar; A M Adachi
Journal:  J Clin Invest       Date:  1988-05       Impact factor: 14.808

2.  Prenatal identification of a deleted Y chromosome by cytogenetics and a Y-specific repetitive DNA probe.

Authors:  C Disteche; D Luthy; D B Haslam; D Hoar
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.

Authors:  B Triggs-Raine; T J Salo; H Zhang; B A Wicklow; M R Natowicz
Journal:  Proc Natl Acad Sci U S A       Date:  1999-05-25       Impact factor: 11.205

4.  Primer-mediated enzymatic amplification of cytomegalovirus (CMV) DNA. Application to the early diagnosis of CMV infection in marrow transplant recipients.

Authors:  S A Cassol; M C Poon; R Pal; M J Naylor; J Culver-James; T J Bowen; J A Russell; S A Krawetz; R T Pon; D I Hoar
Journal:  J Clin Invest       Date:  1989-04       Impact factor: 14.808

5.  A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.

Authors:  B L Triggs-Raine; E H Mules; M M Kaback; J S Lim-Steele; C E Dowling; B R Akerman; M R Natowicz; E E Grebner; R Navon; J P Welch
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

6.  Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

Authors:  B Triggs-Raine; M Richard; N Wasel; E M Prence; M R Natowicz
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025

7.  Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes.

Authors:  M C Poon; D H Chui; M Patterson; D M Starozik; L S Dimnik; D I Hoar
Journal:  J Clin Invest       Date:  1987-04       Impact factor: 14.808

8.  A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.

Authors:  Z Cao; M R Natowicz; M M Kaback; J S Lim-Steele; E M Prence; D Brown; T Chabot; B L Triggs-Raine
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

9.  Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.

Authors:  B L Triggs-Raine; B R Akerman; J T Clarke; R A Gravel
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

  9 in total

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