Abstract:
:A register of families with Duchenne muscular dystrophy (DMD) has been maintained in Wales since 1973. Since 1986 we have attempted to refine carrier status, and when necessary offer prenatal diagnosis, for those at significant risk by using intragenic probes. cDNA probes were included from the beginning of 1988. Thirty-four (30%) of the 115 women tested were assigned a risk of carrying the DMD gene of less than 5%. Thirty-three (29%) of the women at 5% or greater risk are now able to have prenatal diagnosis using a molecular deletion; such deletions were detected in 50% of affected boys. The remaining women could have prenatal diagnosis using a linked intragenic probe with an error rate varying between 0.25% and 9%. In 19 cases DNA samples from DMD boys who were dead at the time of analysis were used, indicating that it is essential to bank DNA from all males affected by DMD. We conclude that a large proportion of women at risk of carrying the DMD gene can now be helped by DNA studies.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Norman AM,Upadhyaya M,Thomas NS,Roberts K,Harper PSdoi
10.1136/jmg.26.9.565subject
Has Abstractpub_date
1989-09-01 00:00:00pages
565-71issue
9eissn
0022-2593issn
1468-6244journal_volume
26pub_type
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更新日期:2014-03-01 00:00:00
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pub_type: 杂志文章
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更新日期:2010-06-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1985-02-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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doi:10.1136/jmg.32.4.293
更新日期:1995-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1136/jmg.30.10.843
更新日期:1993-10-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.6.489
更新日期:1997-06-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102815
更新日期:2015-04-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
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pub_type: 信件
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journal_title:Journal of medical genetics
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更新日期:2017-11-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
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更新日期:2015-11-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.1.34
更新日期:1991-01-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.12.990
更新日期:1997-12-01 00:00:00
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pub_type: 杂志文章
doi:10.1136/jmg.33.12.996
更新日期:1996-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-102151
更新日期:2014-05-01 00:00:00