Abstract：
INTRODUCTION:Normally the N-terminal domain of the LDL receptor (LDLR) binds to low-density lipoprotein through apolipoprotein B100. Mutations within the LDL receptor and/or apolipoprotein B-100 genes compromising this process may lead to congenital monogenic hypercholesterolaemias known as familial hypercholesterolaemia or familial defective apolipoprotein B-100. These diseases are inherited as autosomal dominant traits. AIM:To search for LDLR and apoB100 gene mutations in a Polish population of patients with hypercholesterolaemia and to determine their types and locations. An attempt was also made to evaluate the influence of identified gene mutations on the modification of protein product sequence and the severity of its functional impairment. METHODS:LDLR and apoB100 gene analyses using PCR, SSCP and automated sequencing techniques were performed in 190 hypercholesterolaemic patients. Flow cytometry was used to measure the influence of Cys152Trp mutation in the LDLR gene on ligand binding and internalisation. The OLA method was used for the preparation of adequate genetic markers allowing rapid detection of one of the most deleterious mutations of the apoB100 gene. RESULTS AND CONCLUSIONS:Three brand new mutations, not reported so far, have been detected--Pro2712Leu and Ile3532 in the apoB100 gene, and Cys347Ser in the LDLR gene--and numerous changes in the nucleotide sequence of the LDL receptor gene have been confirmed. The observations of functionality of the mutated receptor gene with flow cytometry suggested the dysfunction of LDLR due to Cys152Trp polymorphism reported in many studies.
journal_name
Kardiol Poljournal_title
Kardiologia polskaauthors
Plewa R,Łuczak M,Burchardt P,Bolewski A,Wierzchowiecki J,Siminiak Tsubject
Has Abstractpub_date
2006-02-01 00:00:00pages
127-33; discussion 134issue
2eissn
0022-9032issn
1897-4279pii
5512journal_volume
64pub_type
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journal_title：Kardiologia polska
pub_type： 杂志文章
doi：
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journal_title：Kardiologia polska
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journal_title：Kardiologia polska
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journal_title：Kardiologia polska
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更新日期：2008-01-01 00:00:00
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journal_title：Kardiologia polska
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journal_title：Kardiologia polska
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journal_title：Kardiologia polska
pub_type： 杂志文章
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journal_title：Kardiologia polska
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journal_title：Kardiologia polska
pub_type： 临床试验,杂志文章,多中心研究
doi：
更新日期：1989-01-01 00:00:00
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journal_title：Kardiologia polska
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pub_type： 杂志文章
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journal_title：Kardiologia polska
pub_type： 杂志文章
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journal_title：Kardiologia polska
pub_type： 杂志文章
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更新日期：1992-10-01 00:00:00
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pub_type： 杂志文章
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更新日期：2011-01-01 00:00:00
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journal_title：Kardiologia polska
pub_type： 临床试验,杂志文章
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更新日期：2013-01-01 00:00:00
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journal_title：Kardiologia polska
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更新日期：2007-08-01 00:00:00
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pub_type： 杂志文章
doi：
更新日期：2009-08-01 00:00:00
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journal_title：Kardiologia polska
pub_type： 杂志文章
doi：
更新日期：2008-02-01 00:00:00
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journal_title：Kardiologia polska
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更新日期：1990-02-01 00:00:00
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journal_title：Kardiologia polska
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更新日期：1989-01-01 00:00:00
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更新日期：2003-06-01 00:00:00
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pub_type： 杂志文章,随机对照试验
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更新日期：2008-06-01 00:00:00
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pub_type： 杂志文章
doi：
更新日期：1991-01-01 00:00:00
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