Abstract:
:The symptomatic treatment of dopa-responsive dystonia (DRD) emphasizes the importance of molecular analyses of the GCH-1, TH and parkin genes. However, these analyses have not been extensively studied in Chinese DRD patients. Ten DRD families from the Han ethnic group including 14 patients and 28 clinically unaffected relatives were screened for GCH-1, TH and parkin mutations by direct sequencing, semiquantitative polymerase chain reaction (PCR), polymerase chain reaction-restriction fragment length polymorphism analysis and allele-specific PCR. Variations were verified in 200 unrelated control subjects. We have identified six novel mutations and three known mutations. The novel mutations are Leu91Val, Pro95Leu, Val204Gly and 628delC in GCH-1 gene; Gly216Ser in TH gene; and Cys253Phe in parkin gene. After molecular analyses of seven families with identified GCH-1 mutations, nine asymptomatic cases were found among 23 relatives, which confirmed the low penetrance of DRD. Unlike previous publications, male patients with GCH-1 mutations have early onset ages, while some female patients have very late onset ages in this medium-size series. Our data show that it is difficult to establish an evident genotype-phenotype correlation for DRD. However, it is necessary to know the genetic defects of DRD patients in clinics, which will help elucidate the mode of inheritance, facilitate causal therapy with levodopa and evaluate the prognosis.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Wu ZY,Lin Y,Chen WJ,Zhao GX,Xie H,Murong SX,Wang Ndoi
10.1111/j.1399-0004.2008.01039.xsubject
Has Abstractpub_date
2008-12-01 00:00:00pages
513-21issue
6eissn
0009-9163issn
1399-0004pii
CGE1039journal_volume
74pub_type
杂志文章abstract::A child is described with most of the typical clinical features of the cri-du-chat syndrome. G- and C-banding studies revealed the karyotype 45,XX, -5, -15, +tdic (5;15) with the loss of short arm material from chromosome 5. Centromeric heterochromatin of the translocated No. 15 is still present in the translocation c...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1978.tb02100.x
更新日期:1978-12-01 00:00:00
abstract::The logistic regression model is a popular model for data analysis in epidemiological research. In this paper, we use this model to analyze genetic data collected from gene-longevity association studies. This new approach models the probability of observing one genotype as a function of the age of investigated individ...
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
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journal_title:Clinical genetics
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pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1976.tb02272.x
更新日期:1976-04-01 00:00:00
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pub_type: 杂志文章
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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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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1976.tb01573.x
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb00609.x
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journal_title:Clinical genetics
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pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13919
更新日期:2021-01-07 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:1975-10-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2005.00446.x
更新日期:2005-07-01 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
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journal_title:Clinical genetics
pub_type: 杂志文章
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pub_type: 杂志文章,评审
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2016-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02366.x
更新日期:1996-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1995.tb04119.x
更新日期:1995-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1977-10-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12045
更新日期:2013-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1998.tb02600.x
更新日期:1998-06-01 00:00:00