Abstract:
:Between 1994 and 1998, the 23 UK genetics departments, which form the UK Huntington's Disease Consortium, have undertaken 161 direct mutation adult predictive tests on individuals whose at-risk parent was alive or had died without showing signs of Huntington's disease (HD) (5.7% of total UK tests). This study describes the number of requests for 25% risk predictive testing for HD in 1994 (the first year in which direct testing was available in the UK), and also a descriptive survey of the first 85 tests. In total, 85 tests were performed in the first 2 years of direct mutation testing, ten (11.8%) tests were mutation positive, 73 (85.91%) were negative and two (2.3%) were equivocal. The at-risk parent was alive in 54 (63.5%) cases. Four of the ten mutation positive candidates had parents who were alive and therefore received a prediction through their child. All centres included a discussion about the effect of testing on the 50% at-risk parent and all offered to see the parent for counselling. Of the 87 applicants for testing during 1994, 31 (35.6%) withdrew, this is higher than the 25% withdrawal rate for the 50% risk candidates. The candidates who withdrew were significantly younger and had more parents who were alive than those who continued with testing. Seven of the 31 candidates who withdrew from testing had at-risk parents who decided to be tested in the first instance. During the counselling process, issues were raised relating to pre-test agreements and family secrecy. This study indicates the importance of pre-test counselling and the involvement of the parent in the counselling process. 25% risk testing for HD is now being offered in the majority of UK centres. As more genes are identified for late-onset conditions, it is important that the complexities of 25% risk testing for late-onset conditions are not underestimated. This limited survey does not investigate how individual families cope with the psychological and social issues raised by this study and further research in this area is needed.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Benjamin CM,Lashwood Adoi
10.1034/j.1399-0004.2000.580107.xsubject
Has Abstractpub_date
2000-07-01 00:00:00pages
41-9issue
1eissn
0009-9163issn
1399-0004journal_volume
58pub_type
杂志文章,多中心研究abstract::Long non-coding RNAs (lncRNAs), a class of long RNAs, are longer than 200 nucleotides in length but lack protein-coding capacity. LncRNAs, as critical genomic regulators, are involved in genomic imprinting regulation, histone modification and gene expression regulation as well as tumor initiation and progression. Howe...
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abstract::Basic knowledge of genetics is essential for understanding genetic testing and counseling. The lack of a written, English language, validated, published measure has limited our ability to evaluate genetic knowledge of patients and families. Here, we begin the psychometric analysis of a true/false genetic knowledge mea...
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
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更新日期:1995-09-01 00:00:00
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更新日期:2011-08-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
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更新日期:1988-08-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1980.tb01018.x
更新日期:1980-08-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb03011.x
更新日期:1991-03-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1998-10-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1034/j.1399-0004.2000.580510.x
更新日期:2000-11-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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pub_type: 临床试验,杂志文章
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更新日期:2002-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1992-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1987-11-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1988.tb02885.x
更新日期:1988-11-01 00:00:00
abstract::A set of 15 surface measurements taken directly from the craniofacial region were determined in 51 patients with Waardenburg syndrome type I (WSI). A roentgencephamometric analysis including 20 linear dimensions was also performed by the use of cephalograms of 28 patients. Pairs between patients and controls of the sa...
journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1993-07-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1997-03-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2007-03-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1997-06-01 00:00:00
abstract::Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder caused by loss of function mutations of PKD1 or PKD2 genes. Although PKD1 is highly polymorphic and the new mutation rate is relatively high, the role of mosaicism is incompletely defined. Herein, we describe the molecular analysi...
journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2015-04-01 00:00:00