Abstract:
BACKGROUND:Congenital chromosome abnormalities are relatively common in our species and among structural abnormalities the most common class is balanced reciprocal translocations. Determining the parental origin of de novo balanced translocations may provide insights into how and when they arise. While there is a general paternal bias in the origin of non-recurrent unbalanced rearrangements, there are few data on parental origin of non-recurrent balanced rearrangements. METHODS:The parental origin of a series of de novo balanced reciprocal translocations was determined using DNA from flow sorted derivative chromosomes and linkage analysis. RESULTS:Of 27 translocations, we found 26 to be of paternal origin and only one of maternal origin. We also found the paternally derived translocations to be associated with a significantly increased paternal age (p<0.008). CONCLUSION:Our results suggest there is a very pronounced paternal bias in the origin of all non-recurrent reciprocal translocations and that they may arise during one of the numerous mitotic divisions that occur in the spermatogonial germ cells prior to meiosis.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Thomas NS,Morris JK,Baptista J,Ng BL,Crolla JA,Jacobs PAdoi
10.1136/jmg.2009.069716subject
Has Abstractpub_date
2010-02-01 00:00:00pages
112-5issue
2eissn
0022-2593issn
1468-6244pii
jmg.2009.069716journal_volume
47pub_type
杂志文章abstract:BACKGROUND:Five single nucleotide polymorphisms (SNPs) were previously reported to be associated with thyroid cancer in European populations in two genome-wide association studies (GWAS): rs965513 (9q22.33), rs944289 (14q13.3), rs116909374 (14q13.3), rs966423 (2q35) and rs2439302 (8p12). Only the first two SNPs have be...
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pub_type: 信件
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doi:
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abstract:BACKGROUND:Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Due to the various manifestations of TSC and their potential complications, a multidisciplinary care approach is recommended by consensus guidelines. OBJECTIVES:Our study aimed to give a complete description of our TSC adult coh...
journal_title:Journal of medical genetics
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更新日期:2021-01-01 00:00:00
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journal_title:Journal of medical genetics
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pub_type: 杂志文章,评审
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更新日期:1993-01-01 00:00:00
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journal_title:Journal of medical genetics
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doi:10.1136/jmg.2006.047860
更新日期:2007-04-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.18.3.239
更新日期:1981-06-01 00:00:00
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pub_type: 杂志文章
doi:10.1136/jmg.34.1.1
更新日期:1997-01-01 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:1994-10-01 00:00:00
abstract::G band cytogenetic analysis often leads to the discovery of unbalanced karyotypes that require further characterisation by molecular cytogenetic studies. In particular, G band analysis usually does not show the chromosomal origin of small marker chromosomes or of a small amount of extra material detected on otherwise ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-07-01 00:00:00
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更新日期:2013-02-01 00:00:00
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pub_type: 杂志文章,多中心研究
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更新日期:2018-08-01 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:1988-05-01 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:1994-08-01 00:00:00
abstract:BACKGROUND:Psoriasis is an immune-mediated skin disorder that is inherited as a multifactorial trait. Linkage analyses have clearly mapped a primary disease susceptibility locus to the major histocompatibility complex (MHC) region on chromosome 6p21. More recently, whole-genome association studies have identified two n...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2007.053595
更新日期:2008-02-01 00:00:00
abstract::Cardio-facio-cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS) are clinically related developmental disorders that have been recently linked to mutations in the RAS/MEK/ERK signalling pathway. This study was a mutation analysis of the KRAS, BRAF, MEK1 and MEK2 genes in a total of 130 patients ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:2007-12-01 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:1983-02-01 00:00:00
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pub_type: 杂志文章
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更新日期:2003-01-01 00:00:00