Pedigree testing in duchenne muscular dystrophy

A. D. Roses; M. J. Roses; B. S. Metcalf; K. L. Hull; G. A. Nicholson; G. B. Hartwig; C. R. Roe

doi:10.1002/ana.410020403

Pedigree testing in duchenne muscular dystrophy

A. D. Roses^*, M. J. Roses, B. S. Metcalf, K. L. Hull, G. A. Nicholson, G. B. Hartwig, C. R. Roe

^*Corresponding author for this work

Research output: Contribution to journal › Article

23 Citations (Scopus)

Abstract

Female relatives of 41 Duchenne muscular dystrophy proband cases were studied with a panel of carrier‐detection tests. A total of 277 relatives were tested in order to determine which mothers had affected sons as a result of new mutation. In 39 of 41 pedigrees the data demonstrate that a mutation cannot be postulated; the 2 negative pedigrees were inadequately tested. Our data suggest that all mothers of affected sons should be considered genetic carriers (heterozygotes) until proved otherwise. Our findings also raise questions concerning what mechanisms skew the indirect statistical estimates of mutation that are in common use.

Original language	English
Pages (from-to)	271-278
Number of pages	8
Journal	Annals of Neurology
Volume	2
Issue number	4
DOIs	https://doi.org/10.1002/ana.410020403
Publication status	Published - 1977
Externally published	Yes

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title = "Pedigree testing in duchenne muscular dystrophy",

abstract = "Female relatives of 41 Duchenne muscular dystrophy proband cases were studied with a panel of carrier‐detection tests. A total of 277 relatives were tested in order to determine which mothers had affected sons as a result of new mutation. In 39 of 41 pedigrees the data demonstrate that a mutation cannot be postulated; the 2 negative pedigrees were inadequately tested. Our data suggest that all mothers of affected sons should be considered genetic carriers (heterozygotes) until proved otherwise. Our findings also raise questions concerning what mechanisms skew the indirect statistical estimates of mutation that are in common use.",

author = "Roses, {A. D.} and Roses, {M. J.} and Metcalf, {B. S.} and Hull, {K. L.} and Nicholson, {G. A.} and Hartwig, {G. B.} and Roe, {C. R.}",

year = "1977",

doi = "10.1002/ana.410020403",

language = "English",

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T1 - Pedigree testing in duchenne muscular dystrophy

AU - Roses, A. D.

AU - Roses, M. J.

AU - Metcalf, B. S.

AU - Hull, K. L.

AU - Nicholson, G. A.

AU - Hartwig, G. B.

AU - Roe, C. R.

PY - 1977

Y1 - 1977

N2 - Female relatives of 41 Duchenne muscular dystrophy proband cases were studied with a panel of carrier‐detection tests. A total of 277 relatives were tested in order to determine which mothers had affected sons as a result of new mutation. In 39 of 41 pedigrees the data demonstrate that a mutation cannot be postulated; the 2 negative pedigrees were inadequately tested. Our data suggest that all mothers of affected sons should be considered genetic carriers (heterozygotes) until proved otherwise. Our findings also raise questions concerning what mechanisms skew the indirect statistical estimates of mutation that are in common use.

AB - Female relatives of 41 Duchenne muscular dystrophy proband cases were studied with a panel of carrier‐detection tests. A total of 277 relatives were tested in order to determine which mothers had affected sons as a result of new mutation. In 39 of 41 pedigrees the data demonstrate that a mutation cannot be postulated; the 2 negative pedigrees were inadequately tested. Our data suggest that all mothers of affected sons should be considered genetic carriers (heterozygotes) until proved otherwise. Our findings also raise questions concerning what mechanisms skew the indirect statistical estimates of mutation that are in common use.

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DO - 10.1002/ana.410020403

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SP - 271

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JF - Annals of Neurology

SN - 0364-5134

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