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Two Novel Slavic Point Mutations in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg, Russia
Using PCR-single-strand conformation polymorphism analysis, followed by sequencing of the abnormal samples, two novel point mutations in the 5′ end of the fourth exon of the low-density lipoprotein receptor gene were found in two Russian families with familial hypercholesterolemia. These missense mu...
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| Published in: | Molecular genetics and metabolism 1998-01, Vol.63 (1), p.31-34 |
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| Main Authors: | , , , , , |
| Format: | Article |
| Language: | English |
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| cited_by | cdi_FETCH-LOGICAL-c276t-190fd9a94f89c90e278b81ec2af3f480593399f564fa328843d6064a0fbd14473 |
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| cites | cdi_FETCH-LOGICAL-c276t-190fd9a94f89c90e278b81ec2af3f480593399f564fa328843d6064a0fbd14473 |
| container_end_page | 34 |
| container_issue | 1 |
| container_start_page | 31 |
| container_title | Molecular genetics and metabolism |
| container_volume | 63 |
| creator | Kh, Chakir Skobeleva, Natalia A. Shevtsov, Sergei P. Konstantinov, Vladimir O. Denisenko, Alexander D. Schwartz, Eugene I. |
| description | Using PCR-single-strand conformation polymorphism analysis, followed by sequencing of the abnormal samples, two novel point mutations in the 5′ end of the fourth exon of the low-density lipoprotein receptor gene were found in two Russian families with familial hypercholesterolemia. These missense mutations consist of C127W and C139G transitions and result in a loss of one of three disulfide bonds in the fourth cysteine-rich repeat of the ligand-binding domain of the low-density lipoprotein receptor. Hypercholesterolemia segregated with the identified mutations. |
| doi_str_mv | 10.1006/mgme.1997.2614 |
| format | article |
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These missense mutations consist of C127W and C139G transitions and result in a loss of one of three disulfide bonds in the fourth cysteine-rich repeat of the ligand-binding domain of the low-density lipoprotein receptor. Hypercholesterolemia segregated with the identified mutations.</description><identifier>ISSN: 1096-7192</identifier><identifier>EISSN: 1096-7206</identifier><identifier>DOI: 10.1006/mgme.1997.2614</identifier><identifier>PMID: 9538514</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Aged ; Child ; familial hypercholesterolemia ; FEDERACION DE RUSIA ; FEDERATION DE RUSSIE ; Female ; HIPERLIPIDEMIA ; Humans ; HYPERLIPIDAEMIA ; HYPERLIPIDEMIE ; Hyperlipoproteinemia Type II - genetics ; LIPOPROTEINAS ; LIPOPROTEINE ; LIPOPROTEINS ; low-density lipoprotein receptor ; Male ; Middle Aged ; MUTACION ; MUTATION ; PCR-SSCP analysis ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Receptors, LDL - genetics ; Russia ; RUSSIAN FEDERATION ; Sequence Analysis, DNA ; single-strand conformation polymorphism</subject><ispartof>Molecular genetics and metabolism, 1998-01, Vol.63 (1), p.31-34</ispartof><rights>1998 Academic Press</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c276t-190fd9a94f89c90e278b81ec2af3f480593399f564fa328843d6064a0fbd14473</citedby><cites>FETCH-LOGICAL-c276t-190fd9a94f89c90e278b81ec2af3f480593399f564fa328843d6064a0fbd14473</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9538514$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kh, Chakir</creatorcontrib><creatorcontrib>Skobeleva, Natalia A.</creatorcontrib><creatorcontrib>Shevtsov, Sergei P.</creatorcontrib><creatorcontrib>Konstantinov, Vladimir O.</creatorcontrib><creatorcontrib>Denisenko, Alexander D.</creatorcontrib><creatorcontrib>Schwartz, Eugene I.</creatorcontrib><title>Two Novel Slavic Point Mutations in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg, Russia</title><title>Molecular genetics and metabolism</title><addtitle>Mol Genet Metab</addtitle><description>Using PCR-single-strand conformation polymorphism analysis, followed by sequencing of the abnormal samples, two novel point mutations in the 5′ end of the fourth exon of the low-density lipoprotein receptor gene were found in two Russian families with familial hypercholesterolemia. These missense mutations consist of C127W and C139G transitions and result in a loss of one of three disulfide bonds in the fourth cysteine-rich repeat of the ligand-binding domain of the low-density lipoprotein receptor. Hypercholesterolemia segregated with the identified mutations.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Child</subject><subject>familial hypercholesterolemia</subject><subject>FEDERACION DE RUSIA</subject><subject>FEDERATION DE RUSSIE</subject><subject>Female</subject><subject>HIPERLIPIDEMIA</subject><subject>Humans</subject><subject>HYPERLIPIDAEMIA</subject><subject>HYPERLIPIDEMIE</subject><subject>Hyperlipoproteinemia Type II - genetics</subject><subject>LIPOPROTEINAS</subject><subject>LIPOPROTEINE</subject><subject>LIPOPROTEINS</subject><subject>low-density lipoprotein receptor</subject><subject>Male</subject><subject>Middle Aged</subject><subject>MUTACION</subject><subject>MUTATION</subject><subject>PCR-SSCP analysis</subject><subject>Pedigree</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Receptors, LDL - genetics</subject><subject>Russia</subject><subject>RUSSIAN FEDERATION</subject><subject>Sequence Analysis, DNA</subject><subject>single-strand conformation polymorphism</subject><issn>1096-7192</issn><issn>1096-7206</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><recordid>eNp1UU1v1DAQtRBVKS1Xbkg-cSLBTpw4PqKWtkhLu-q2Z8vrjHeNkjjYzq72n_BzcbQLnDjNaN578_UQek9JTgmpP_ebHnIqBM-LmrJX6IISUWe8IPXrPzkVxRv0NoQfhFBaCXaOzkVVNhVlF-jX897hB7eDDq86tbMaL50dIv4-RRWtGwK2A45bwAu3z25gCDYe8MKObvQuQsKeQMMYncd3MMBMXiYdDDHgvY1bfKt621nV4fvDCF5vXQchgk-htwob73q8ijleQiqG9eQ3n_DTFIJVV-jMqC7Au1O8RC-3X5-v77PF49236y-LTBe8jhkVxLRCCWYaoQWBgjfrhoIulCkNa0glylIIU9XMqLJoGla2NamZImbdUsZ4eYk-Hvumg35OaTnZ26Ch69QAbgqSC855VczE_EjU3oXgwcjR2175g6REzlbI2Qo5WyFnK5Lgw6nztO6h_Us__f4fbpSTauNtkC-rWU64KEmV8OaIQzp_Z8HLoNNnNbTWg46ydfZ_o38DkzyjBg</recordid><startdate>199801</startdate><enddate>199801</enddate><creator>Kh, Chakir</creator><creator>Skobeleva, Natalia A.</creator><creator>Shevtsov, Sergei P.</creator><creator>Konstantinov, Vladimir O.</creator><creator>Denisenko, Alexander D.</creator><creator>Schwartz, Eugene I.</creator><general>Elsevier Inc</general><scope>FBQ</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>199801</creationdate><title>Two Novel Slavic Point Mutations in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg, Russia</title><author>Kh, Chakir ; Skobeleva, Natalia A. ; Shevtsov, Sergei P. ; Konstantinov, Vladimir O. ; Denisenko, Alexander D. ; Schwartz, Eugene I.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c276t-190fd9a94f89c90e278b81ec2af3f480593399f564fa328843d6064a0fbd14473</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Child</topic><topic>familial hypercholesterolemia</topic><topic>FEDERACION DE RUSIA</topic><topic>FEDERATION DE RUSSIE</topic><topic>Female</topic><topic>HIPERLIPIDEMIA</topic><topic>Humans</topic><topic>HYPERLIPIDAEMIA</topic><topic>HYPERLIPIDEMIE</topic><topic>Hyperlipoproteinemia Type II - genetics</topic><topic>LIPOPROTEINAS</topic><topic>LIPOPROTEINE</topic><topic>LIPOPROTEINS</topic><topic>low-density lipoprotein receptor</topic><topic>Male</topic><topic>Middle Aged</topic><topic>MUTACION</topic><topic>MUTATION</topic><topic>PCR-SSCP analysis</topic><topic>Pedigree</topic><topic>Point Mutation</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Receptors, LDL - genetics</topic><topic>Russia</topic><topic>RUSSIAN FEDERATION</topic><topic>Sequence Analysis, DNA</topic><topic>single-strand conformation polymorphism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kh, Chakir</creatorcontrib><creatorcontrib>Skobeleva, Natalia A.</creatorcontrib><creatorcontrib>Shevtsov, Sergei P.</creatorcontrib><creatorcontrib>Konstantinov, Vladimir O.</creatorcontrib><creatorcontrib>Denisenko, Alexander D.</creatorcontrib><creatorcontrib>Schwartz, Eugene I.</creatorcontrib><collection>AGRIS</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Molecular genetics and metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kh, Chakir</au><au>Skobeleva, Natalia A.</au><au>Shevtsov, Sergei P.</au><au>Konstantinov, Vladimir O.</au><au>Denisenko, Alexander D.</au><au>Schwartz, Eugene I.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Two Novel Slavic Point Mutations in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg, Russia</atitle><jtitle>Molecular genetics and metabolism</jtitle><addtitle>Mol Genet Metab</addtitle><date>1998-01</date><risdate>1998</risdate><volume>63</volume><issue>1</issue><spage>31</spage><epage>34</epage><pages>31-34</pages><issn>1096-7192</issn><eissn>1096-7206</eissn><abstract>Using PCR-single-strand conformation polymorphism analysis, followed by sequencing of the abnormal samples, two novel point mutations in the 5′ end of the fourth exon of the low-density lipoprotein receptor gene were found in two Russian families with familial hypercholesterolemia. These missense mutations consist of C127W and C139G transitions and result in a loss of one of three disulfide bonds in the fourth cysteine-rich repeat of the ligand-binding domain of the low-density lipoprotein receptor. Hypercholesterolemia segregated with the identified mutations.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>9538514</pmid><doi>10.1006/mgme.1997.2614</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1096-7192 |
| ispartof | Molecular genetics and metabolism, 1998-01, Vol.63 (1), p.31-34 |
| issn | 1096-7192 1096-7206 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_79777527 |
| source | ScienceDirect Freedom Collection |
| subjects | Adolescent Adult Aged Child familial hypercholesterolemia FEDERACION DE RUSIA FEDERATION DE RUSSIE Female HIPERLIPIDEMIA Humans HYPERLIPIDAEMIA HYPERLIPIDEMIE Hyperlipoproteinemia Type II - genetics LIPOPROTEINAS LIPOPROTEINE LIPOPROTEINS low-density lipoprotein receptor Male Middle Aged MUTACION MUTATION PCR-SSCP analysis Pedigree Point Mutation Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Receptors, LDL - genetics Russia RUSSIAN FEDERATION Sequence Analysis, DNA single-strand conformation polymorphism |
| title | Two Novel Slavic Point Mutations in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg, Russia |
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