Literature DB >> 9556658

Segregation analysis of hemophilia A and B.

I Barrai1, H M Cann, L L Cavalli-Sforza, G Barbujani, P De Nicola.   

Abstract

We analyzed a sample of 1,485 families with hemophilia A and B and with unknown diagnosis. The frequency of sporadic cases was estimated to be .166 and .078 for the two types of hemophilia, respectively. The sex ratio of mutation rates did not differ significantly from unity. The average age of maternal grandfathers of probands at birth of mothers with a single child, affected by hemophilia B, and of maternal grandfathers of probands at birth of mothers with more than one child affected by hemophilia B, was higher than the age in appropriate control groups.

Entities:  

Mesh：

Year:  1985        PMID： 9556658      PMCID： PMC1684610     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  8 in total

1.  Genetic tests under incomplete ascertainment.

Authors:  N E MORTON
Journal:  Am J Hum Genet       Date:  1959-03       Impact factor: 11.025

2.  Sporadic cases of hemophilia and the question of a possible sex difference in mutation rates.

Authors:  N KOSOWER; R CHRISTIANSEN; N E MORTON
Journal:  Am J Hum Genet       Date:  1962-06       Impact factor: 11.025

3.  Segregation analysis of hemophilia A and B.

Authors:  I Barrai; H M Cann; L L Cavalli-Sforza
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

4.  A probable sex difference in some mutation rates.

Authors:  F Vogel
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

5.  The effect of parental age on rates of mutation for hemophilia and evidence for differing mutation rates for hemophilia A and B.

Authors:  I Barrai; H M Cann; L L Cavalli-Sforza; P De Nicola
Journal:  Am J Hum Genet       Date:  1968-05       Impact factor: 11.025

6.  Duchenne muscular dystrophy. Frequency of sporadic cases.

Authors:  G A Danieli; G Barbujani
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  No sex difference in mutations rates of Duchenne muscular dystrophy.

Authors:  N Yasuda; K Kondô
Journal:  J Med Genet       Date:  1980-04       Impact factor: 6.318

8.  The effect of parental age on rate of mutation for Duchenne Muscular dystrophy.

Authors:  N Yasuda; K Kondo
Journal:  Am J Med Genet       Date:  1982-09
  8 in total
  13 in total

1.  Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.

Authors:  A H Bröcker-Vriends; F R Rosendaal; J C van Houwelingen; E Bakker; G J van Ommen; J J van de Kamp; E Briët
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

2.  Prenatal diagnosis of haemophilia B by the use of polymerase chain reaction and direct sequencing.

Authors:  M Ludwig; H H Brackmann; K Olek
Journal:  Klin Wochenschr       Date:  1991-03-18

3.  Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.

Authors:  D D Koeberl; C D Bottema; G Sarkar; R P Ketterling; S H Chen; S S Sommer
Journal:  Hum Genet       Date:  1990-04       Impact factor: 4.132

4.  Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.

Authors:  D D Koeberl; C D Bottema; R P Ketterling; P J Bridge; D P Lillicrap; S S Sommer
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

5.  Sporadic cases in Duchenne muscular dystrophy. A reappraisal through segregation analysis on 988 sibships.

Authors:  A Russo; G Barbujani; M L Mostacciuolo; F H Herrmann; A W Spiegler; G Galluzzi; G A Danieli
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

6.  The rates and patterns of deletions in the human factor IX gene.

Authors:  R P Ketterling; E L Vielhaber; T J Lind; E C Thorland; S S Sommer
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

7.  Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

Authors:  J Becker; R Schwaab; A Möller-Taube; U Schwaab; W Schmidt; H H Brackmann; T Grimm; K Olek; J Oldenburg
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

8.  RFLP analysis in families with sporadic hemophilia A. Estimate of the mutation ratio in male and female gametes.

Authors:  F Bernardi; G Marchetti; V Bertagnolo; L Faggioli; S Volinia; P Patracchini; S Bartolai; F Vannini; L Felloni; L Rossi
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

9.  Parental origin of factor IX gene mutations, and their distribution in the gene.

Authors:  M Ludwig; T Grimm; H H Brackmann; K Olek
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

10.  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
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