Duchenne muscular dystrophy - Data from family studies

G. A. Danieli, M. L. Mostacciuolo, G. Pilotto, C. Angelini, A. Bonfante

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

In an extensive epidemiological survey of Duchenne muscular dystrophy carried out in Venetia (Italy) the incidence was found to be 28.2×10-5 and female gamete mutation rate was estimated by the direct method between 61 and 35×10-6. The percentage of isolated cases was 0.54. Indirect and direct estimates of this proportion suggest, however, that only a minor fraction arises from maternal mutation (from 0.11 to 0.18 of the total number of cases). Studies on pedigrees collected in the course of the survey indicate that there is a higher frequency of Duchenne carrier females than normal females in affected sibships. Additional evidence supporting the hypothesis of a reproductive heterozygote advantage and gametic selection is reported.

Original languageEnglish
Pages (from-to)63-68
Number of pages6
JournalHuman Genetics
Volume54
Issue number1
DOIs
Publication statusPublished - Apr 1980

Fingerprint

Duchenne Muscular Dystrophy
Mutation Rate
Pedigree
Heterozygote
Germ Cells
Italy
Mothers
Mutation
Incidence
Surveys and Questionnaires

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Danieli, G. A., Mostacciuolo, M. L., Pilotto, G., Angelini, C., & Bonfante, A. (1980). Duchenne muscular dystrophy - Data from family studies. Human Genetics, 54(1), 63-68. https://doi.org/10.1007/BF00279050

Duchenne muscular dystrophy - Data from family studies. / Danieli, G. A.; Mostacciuolo, M. L.; Pilotto, G.; Angelini, C.; Bonfante, A.

In: Human Genetics, Vol. 54, No. 1, 04.1980, p. 63-68.

Research output: Contribution to journalArticle

Danieli, GA, Mostacciuolo, ML, Pilotto, G, Angelini, C & Bonfante, A 1980, 'Duchenne muscular dystrophy - Data from family studies', Human Genetics, vol. 54, no. 1, pp. 63-68. https://doi.org/10.1007/BF00279050
Danieli GA, Mostacciuolo ML, Pilotto G, Angelini C, Bonfante A. Duchenne muscular dystrophy - Data from family studies. Human Genetics. 1980 Apr;54(1):63-68. https://doi.org/10.1007/BF00279050
Danieli, G. A. ; Mostacciuolo, M. L. ; Pilotto, G. ; Angelini, C. ; Bonfante, A. / Duchenne muscular dystrophy - Data from family studies. In: Human Genetics. 1980 ; Vol. 54, No. 1. pp. 63-68.
@article{e5695974aa844223bb6f5b3f359f93b7,
title = "Duchenne muscular dystrophy - Data from family studies",
abstract = "In an extensive epidemiological survey of Duchenne muscular dystrophy carried out in Venetia (Italy) the incidence was found to be 28.2×10-5 and female gamete mutation rate was estimated by the direct method between 61 and 35×10-6. The percentage of isolated cases was 0.54. Indirect and direct estimates of this proportion suggest, however, that only a minor fraction arises from maternal mutation (from 0.11 to 0.18 of the total number of cases). Studies on pedigrees collected in the course of the survey indicate that there is a higher frequency of Duchenne carrier females than normal females in affected sibships. Additional evidence supporting the hypothesis of a reproductive heterozygote advantage and gametic selection is reported.",
author = "Danieli, {G. A.} and Mostacciuolo, {M. L.} and G. Pilotto and C. Angelini and A. Bonfante",
year = "1980",
month = "4",
doi = "10.1007/BF00279050",
language = "English",
volume = "54",
pages = "63--68",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "1",

}

TY - JOUR

T1 - Duchenne muscular dystrophy - Data from family studies

AU - Danieli, G. A.

AU - Mostacciuolo, M. L.

AU - Pilotto, G.

AU - Angelini, C.

AU - Bonfante, A.

PY - 1980/4

Y1 - 1980/4

N2 - In an extensive epidemiological survey of Duchenne muscular dystrophy carried out in Venetia (Italy) the incidence was found to be 28.2×10-5 and female gamete mutation rate was estimated by the direct method between 61 and 35×10-6. The percentage of isolated cases was 0.54. Indirect and direct estimates of this proportion suggest, however, that only a minor fraction arises from maternal mutation (from 0.11 to 0.18 of the total number of cases). Studies on pedigrees collected in the course of the survey indicate that there is a higher frequency of Duchenne carrier females than normal females in affected sibships. Additional evidence supporting the hypothesis of a reproductive heterozygote advantage and gametic selection is reported.

AB - In an extensive epidemiological survey of Duchenne muscular dystrophy carried out in Venetia (Italy) the incidence was found to be 28.2×10-5 and female gamete mutation rate was estimated by the direct method between 61 and 35×10-6. The percentage of isolated cases was 0.54. Indirect and direct estimates of this proportion suggest, however, that only a minor fraction arises from maternal mutation (from 0.11 to 0.18 of the total number of cases). Studies on pedigrees collected in the course of the survey indicate that there is a higher frequency of Duchenne carrier females than normal females in affected sibships. Additional evidence supporting the hypothesis of a reproductive heterozygote advantage and gametic selection is reported.

UR - http://www.scopus.com/inward/record.url?scp=0018872078&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0018872078&partnerID=8YFLogxK

U2 - 10.1007/BF00279050

DO - 10.1007/BF00279050

M3 - Article

C2 - 7390481

AN - SCOPUS:0018872078

VL - 54

SP - 63

EP - 68

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 1

ER -