Literature DB >> 2861360

Prenatal diagnosis of haemophilia A by factor VIII gene analysis.

S E Antonarakis, K L Copeland, R J Carpenter, C A Carta, L W Hoyer, C T Caskey, J J Toole, H H Kazazian.   

Abstract

Cloned factor VIII deoxyribose nucleic acid (DNA) sequences were used as probes in the prenatal diagnosis of haemophilia A. Fetal DNA from cultured amniotic fluid cells was examined for a DNA polymorphism within the factor VIII gene which marked the haemophilia A gene in the pregnant obligate carrier. The fetus was predicted to be an affected male, and the diagnosis of haemophilia A was confirmed both in utero and after termination of the pregnancy.

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Year:  1985        PMID： 2861360     DOI： 10.1016/s0140-6736(85)91842-2

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  9 in total

1.  Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia.

Authors:  C Camaschella; A Serra; G Saglio; M T Bertero; U Mazza; S Terzoli; B Brambati; L Cremonesi; M Travi; M Ferrari
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

2.  Restriction fragment length polymorphisms associated with factor VIII:C gene in Chinese.

Authors:  V Chan; T K Chan; V W Liu; A C Wong
Journal:  Hum Genet       Date:  1988-06       Impact factor: 4.132

3.  A new HindIII restriction fragment length polymorphism in the hemophilia A locus.

Authors:  P Ahrens; T A Kruse; M Schwartz; P B Rasmussen; N Din
Journal:  Hum Genet       Date:  1987-06       Impact factor: 4.132

4.  Large DNA inversions, deletions, and TaqI site mutations in severe haemophilia A.

Authors:  M S Figueiredo; M H Tavella; B P Simões
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132

Review 5.  Diagnosis of genetic disease using recombinant DNA.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1986-05       Impact factor: 4.132

6.  "Inborn errors of metabolism" and "chemical individuality", two ideas of Sir Archibald Garrod briefly revisited 50 years after his death.

Authors:  G R Burgio
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

7.  First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13.

Authors:  R M Winter; K Harper; E Goldman; R S Mibashan; R C Warren; C H Rodeck; R J Penketh; R H Ward; R M Hardisty; M E Pembrey
Journal:  Br Med J (Clin Res Ed)       Date:  1985-09-21

8.  A HindIII RFLP and a gene lesion in the coagulation factor VIII gene.

Authors:  F Bernardi; C Legnani; S Volinia; P Patracchini; G Rodorigo; V DeRosa; G Marchetti
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132

9.  De novo mutation in hemophilia A established by DNA haplotype analysis and precluding prenatal diagnosis.

Authors:  M Delpech; N Deburgrave; M Baudis; P Maissonneuve; J M Bardin; Y Sultan; J C Kaplan
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132
  9 in total

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