Abstract:
BACKGROUND AND AIMS:Hypophosphatasia is a genetic disorder characterized by defective bone and tooth mineralization and a deficiency of serum and bone alkaline phosphatase activity. To date, few studies have identified gene mutations in Chinese patients with hypophosphatasia. We sought to characterize the clinical manifestations and identify the mutations associated with the disease in Chinese hypophosphatasia patients. METHODS:All 12 exons and the exon-intron boundaries of the ALPL gene were amplified and directly sequenced in two probands from unrelated Chinese families. The mutation sites were identified in other unaffected members of these two families and 100 healthy controls. RESULTS:In family 1, the proband displayed one novel splice site mutation, c.298-1G>A, which consisted of a homozygous G>A transition at nucleotide 298-1 in intron 4. The proband's mother displayed the heterozygous G/A ALPL gene mutation, but her father was identified as G/G homozygous. A paternity test ruled out false paternity and therefore confirmed that this splicing mutation occurred de novo either in the paternal germline or in the early development of the patient. In family 2, the proband revealed a novel missense mutation (c.1271T>C) in exon 11, which resulted in p.Val424Ala in the mature ALPL polypeptide. Furthermore, c.298-1G>A and c.1271T>C mutations were not found in unaffected family members of these two Chinese families and 100 unrelated controls. CONCLUSIONS:Our study shows that the novel de novo splicing mutation c.298-1G>A in intron 4 and the missense mutation c.1271T>C in exon 11 of the ALPL gene are responsible for hypophosphatasia in some Chinese patients.
journal_name
Arch Med Resjournal_title
Archives of medical researchauthors
Zhang H,Ke YH,Wang C,Yue H,Hu WW,Gu JM,Zhang ZLdoi
10.1016/j.arcmed.2012.01.004subject
Has Abstractpub_date
2012-01-01 00:00:00pages
21-30issue
1eissn
0188-4409issn
1873-5487pii
S0188-4409(12)00005-7journal_volume
43pub_type
杂志文章abstract:BACKGROUND AND AIMS:Distal renal tubular acidosis (dRTA) is characterized by a reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Mutations in the SLC4A1 gene have been found to cause either autosomal dominant (AD) or autosomal recessive (AR)...
journal_title:Archives of medical research
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abstract:BACKGROUND:Exercise duration of constant-load endurance tests has been recently demonstrated to be more sensitive in detecting the changes after bronchodilator administration than either walking distance or peak oxygen uptake in patients with COPD. In the present study, we questioned whether exercise duration of progre...
journal_title:Archives of medical research
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journal_title:Archives of medical research
pub_type: 杂志文章
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abstract:BACKGROUND:A-3826G polymorphism within the promoter region of the uncoupling protein-1 (UCP-1) gene is possibly involved in the pathophysiology of obesity and metabolic disorders. However, the effects of UCP-1 A-3826G polymorphism on high-density lipoprotein cholesterol (HDL-C), a major contributor to atherosclerotic d...
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,meta分析
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更新日期:2009-10-01 00:00:00
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更新日期:2015-05-01 00:00:00
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journal_title:Archives of medical research
pub_type: 杂志文章
doi:10.1016/s0188-4409(00)00247-2
更新日期:2000-11-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1016/j.arcmed.2004.12.001
更新日期:2005-05-01 00:00:00
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journal_title:Archives of medical research
pub_type: 杂志文章
doi:10.1016/j.arcmed.2004.03.001
更新日期:2004-07-01 00:00:00
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更新日期:2016-02-01 00:00:00
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pub_type: 杂志文章
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journal_title:Archives of medical research
pub_type: 杂志文章,评审
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doi:10.1016/j.arcmed.2004.11.013
更新日期:2004-11-01 00:00:00
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journal_title:Archives of medical research
pub_type: 杂志文章
doi:
更新日期:1992-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:2020-10-01 00:00:00
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pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:2001-09-01 00:00:00
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journal_title:Archives of medical research
pub_type: 杂志文章
doi:
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更新日期:2017-11-01 00:00:00
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pub_type: 杂志文章
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更新日期:2002-05-01 00:00:00
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journal_title:Archives of medical research
pub_type: 杂志文章,评审
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更新日期:2018-07-01 00:00:00
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journal_title:Archives of medical research
pub_type: 杂志文章
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