Literature DB >> 3596597

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

A Russo, G Barbujani, M L Mostacciuolo, F H Herrmann, A W Spiegler, G Galluzzi, G A Danieli.   

Abstract

A new estimation of the proportion of sporadic cases in Duchenne muscular dystrophy was attempted by means of segregation analysis in a sample of 988 sibships collected on a world-wide scale by different authors. Maximum likelihood estimates of ascertainment probability (pi), segregation frequency (p), and frequency of sporadic cases (x) were calculated by Morton's equations under different hypotheses. The best fit was found for p = 0.454 +/- 0.024 and x = 0.235 +/- 0.034. The possibility that the proportion of sporadic cases might be lower than the expected 1/3 is suggested.

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Year:  1987        PMID： 3596597     DOI： 10.1007/bf00283613

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  25 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.  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

3.  A probable sex difference in some mutation rates.

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

4.  On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms.

Authors:  E R Karel; G J te Meerman; L P Ten Kate
Journal:  Am J Hum Genet       Date:  1986-06       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.  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

7.  Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9).

Authors:  S Fadda; M Mochi; L Roncuzzi; S Sangiorgi; D Sbarra; M Zatz; G Romeo
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

8.  Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.

Authors:  H Dorkins; C Junien; J L Mandel; K Wrogemann; J P Moison; M Martinez; J M Old; S Bundey; M Schwartz; N Carpenter
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

9.  Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy.

Authors:  C S Brown; N S Thomas; M Sarfarazi; K E Davies; L Kunkel; P L Pearson; H M Kingston; D J Shaw; P S Harper
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

10.  Population data on benign and severe forms of X-linked muscular dystrophy.

Authors:  M L Mostacciuolo; A Lombardi; V Cambissa; G A Danieli; C Angelini
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132
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  7 in total

1.  On the estimation of the proportion of sporadic cases in Duchenne muscular dystrophy.

Authors:  G A Danieli; G Barbujani
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

2.  Hot spot of recombination within DXS164 in the Duchenne muscular dystrophy gene.

Authors:  T Grimm; B Müller; M Dreier; E Kind; T Bettecken; G Meng; C R Müller
Journal:  Am J Hum Genet       Date:  1989-09       Impact factor: 11.025

Review 3.  Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy.

Authors:  Perry B Shieh
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

4.  Identification of a new DMD gene deletion by ectopic transcript analysis.

Authors:  F Rininsland; A Hahn; S Niemann-Seyde; R Slomski; F Hanefeld; J Reiss
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

5.  Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases.

Authors:  G Barbujani; A Russo; G A Danieli; A W Spiegler; J Borkowska; I H Petrusewicz
Journal:  Hum Genet       Date:  1990-05       Impact factor: 4.132

6.  Prenatal deletion detection in a sporadic case of Duchenne muscular dystrophy without genotype information from the affected individual.

Authors:  F Peinemann; M Wagner; U Franke; M Kulle; J Reiss
Journal:  Eur J Pediatr       Date:  1991-02       Impact factor: 3.183

7.  Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy.

Authors:  S Niemann-Seyde; R Slomski; F Rininsland; U Ellermeyer; J Kwiatkowska; J Reiss
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132
  7 in total

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