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Duchenne muscular dystrophy. Frequency of sporadic cases.

作者信息

Danieli G A, Barbujani G

出版信息

Hum Genet. 1984;67(3):252-6. doi: 10.1007/BF00291351.

DOI:10.1007/BF00291351
PMID:6469240
Abstract

A segregation analysis on 135 Duchenne families from Venetia (Italy) suggests that the proportion of sporadic cases might be less than expected. Support for this view is also given by an analysis of a pooled sample including 284 additional sibships from comparable studies published previously. Several hypotheses were tested: the maximum likelihood was obtained for a segregation frequency p = 0.46 and for a proportion of sporadic cases x = 0.227 +/- 0.048.

摘要

相似文献

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引用本文的文献

1
Segregation analysis of hemophilia A and B.甲型和乙型血友病的分离分析。
Am J Hum Genet. 1985 Jul;37(4):680-99.
2
Sporadic cases in Duchenne muscular dystrophy. A reappraisal through segregation analysis on 988 sibships.杜氏肌营养不良症的散发病例。通过对988个同胞对进行分离分析的重新评估。
Hum Genet. 1987 Jul;76(3):230-5. doi: 10.1007/BF00283613.
3
Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families.从杜兴氏肌营养不良症家族中X染色体DNA单倍型的分离情况估计突变率的男女比例。

本文引用的文献

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Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases.
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Sporadic occurrence of Duchenne muscular dystrophy: evidence for new mutation.
Clin Genet. 1980 Nov;18(5):329-41. doi: 10.1111/j.1399-0004.1980.tb02293.x.
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Duchenne muscular dystrophy: data from family studies.杜氏肌营养不良症：家族研究数据。
Hum Genet. 1980;54(1):63-8. doi: 10.1007/BF00279050.
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The genetic status of mothers of isolated cases of Duchenne muscular dystrophy.杜氏肌营养不良孤立病例母亲的基因状况。
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