Abstract：
:An expansion of an unstable (CTG)n trinucleotide repeat in the 3' UTR of a gene encoding a putative serine/threonine protein kinase (DMPK) on human chromosome 19q13.3 has been shown to be specific for the myotonic dystrophy (DM) disease phenotype. In addition, a single haplotype composed of nine alleles within and flanking DMPK over a physical distance of 30 kb has been shown to be in complete linkage disequilibrium with DM. This has led to two hypotheses: (1) predisposition for (CTG)n instability results from a founder effect that occurred only once or a few times in human evolution; and (2) elements within the disease haplotype may predispose the (CTG)n repeat to instability. A detailed haplotype analysis of the DM region was conducted on a Nigerian (Yoruba) DM family, the only indigenous sub-Saharan DM case reported to date. Each affected member of this family had an expanded (CTG)n repeat in one of his or her DMPK alleles. However, unlike all other DM populations studied thus far, disassociation of the (CTG)n repeat expansion from other alleles of the putative predisposing haplotype was found. We conclude that the expanded (CTG)n repeat in this family is the result of an independent mutational event. Consequently, the origin of DM is unlikely to be a single mutational event, and the hypothesis that a single ancestral haplotype predisposes to repeat expansion is not compelling.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Krahe R,Eckhart M,Ogunniyi AO,Osuntokun BO,Siciliano MJ,Ashizawa Tsubject
Has Abstractpub_date
1995-05-01 00:00:00pages
1067-74issue
5eissn
0002-9297issn
1537-6605journal_volume
56pub_type
杂志文章abstract：:To investigate the transmission of Tourette syndrome (TS) and associated disorders within families, complex segregation analysis was performed on family study data obtained from 53 independently ascertained children and adolescents with TS and their 154 first-degree relatives. The results suggest that the susceptibili...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1996-09-01 00:00:00
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
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更新日期：1994-07-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-09-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2012.01.008
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1995-06-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/512132
更新日期：2007-03-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/302895
更新日期：2000-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1978-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1994-04-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1983-07-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1980-03-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-10-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/302318
更新日期：1999-04-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/320105
更新日期：2001-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1985-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/324565
更新日期：2001-12-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2007.09.011
更新日期：2008-01-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：1999-08-01 00:00:00
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journal_title：American journal of human genetics
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doi：
更新日期：1996-03-01 00:00:00
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更新日期：2000-11-01 00:00:00
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2000-10-01 00:00:00
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pub_type： 杂志文章
doi：
更新日期：1990-12-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2014-03-06 00:00:00
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更新日期：1987-05-01 00:00:00
