Gene analysis of steroid 5 alpha-reductase 1 in hyperandrogenic women
To examine the gene encoding for 5alpha-reductase type 1 in hyperandrogenic women, and assess the association of its eventual mutations or polymorphisms with the development of the hyperandrogenic female pattern. Sixteen hyperandrogenic women were included in the study. Single-stranded conformation...
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| Veröffentlicht in: | Croatian medical journal 2005-08, Vol.46 (4), p.664-669 |
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| container_title | Croatian medical journal |
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| creator | Eminović, Izet Komel, Radovan Prezelj, Janez Karamehić, Jasenko Gavrankapetanović, Faris Heljić, Becir |
| description | To examine the gene encoding for 5alpha-reductase type 1 in hyperandrogenic women, and assess the association of its eventual mutations or polymorphisms with the development of the hyperandrogenic female pattern.
Sixteen hyperandrogenic women were included in the study. Single-stranded conformation polymorphism analysis (SSCP) and DNA sequencing were performed after polymerase chain reaction amplification of each of the 5 exons of the SRD5A1 gene in both hyperandrogenic and control group (16 participants).
Sequence analysis identified the existence of many polymorphisms; in codon 24 of exon 1, GGC (Gly) into GAC (Asp); in codon 30 of exon 1, CGG (Arg) into CGC (Arg); in exon 3 codon 169, ACA to ACG (both encoding for threonine); in exon 5, AGA to AGG (both encoding for arginine, codon 260); and T/C polymorphism in intron 2. Polymorphisms were found in both groups.
Polymorphisms of SRD5A1 gene were the same in both hyperandrogenic and healthy women, indicating no significant associations of genetic polymorphisms/variations of SRD5A1 gene with clinical manifestations of hyperandrogenic disorders in women. |
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Sixteen hyperandrogenic women were included in the study. Single-stranded conformation polymorphism analysis (SSCP) and DNA sequencing were performed after polymerase chain reaction amplification of each of the 5 exons of the SRD5A1 gene in both hyperandrogenic and control group (16 participants).
Sequence analysis identified the existence of many polymorphisms; in codon 24 of exon 1, GGC (Gly) into GAC (Asp); in codon 30 of exon 1, CGG (Arg) into CGC (Arg); in exon 3 codon 169, ACA to ACG (both encoding for threonine); in exon 5, AGA to AGG (both encoding for arginine, codon 260); and T/C polymorphism in intron 2. Polymorphisms were found in both groups.
Polymorphisms of SRD5A1 gene were the same in both hyperandrogenic and healthy women, indicating no significant associations of genetic polymorphisms/variations of SRD5A1 gene with clinical manifestations of hyperandrogenic disorders in women.</description><identifier>ISSN: 0353-9504</identifier><identifier>PMID: 16100771</identifier><language>eng</language><publisher>Croatia</publisher><subject>3-Oxo-5-alpha-Steroid 4-Dehydrogenase - genetics ; Adult ; Bosnia and Herzegovina ; Female ; Humans ; Hyperandrogenism - enzymology ; Hyperandrogenism - genetics ; Polymorphism, Genetic</subject><ispartof>Croatian medical journal, 2005-08, Vol.46 (4), p.664-669</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16100771$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Eminović, Izet</creatorcontrib><creatorcontrib>Komel, Radovan</creatorcontrib><creatorcontrib>Prezelj, Janez</creatorcontrib><creatorcontrib>Karamehić, Jasenko</creatorcontrib><creatorcontrib>Gavrankapetanović, Faris</creatorcontrib><creatorcontrib>Heljić, Becir</creatorcontrib><title>Gene analysis of steroid 5 alpha-reductase 1 in hyperandrogenic women</title><title>Croatian medical journal</title><addtitle>Croat Med J</addtitle><description>To examine the gene encoding for 5alpha-reductase type 1 in hyperandrogenic women, and assess the association of its eventual mutations or polymorphisms with the development of the hyperandrogenic female pattern.
Sixteen hyperandrogenic women were included in the study. Single-stranded conformation polymorphism analysis (SSCP) and DNA sequencing were performed after polymerase chain reaction amplification of each of the 5 exons of the SRD5A1 gene in both hyperandrogenic and control group (16 participants).
Sequence analysis identified the existence of many polymorphisms; in codon 24 of exon 1, GGC (Gly) into GAC (Asp); in codon 30 of exon 1, CGG (Arg) into CGC (Arg); in exon 3 codon 169, ACA to ACG (both encoding for threonine); in exon 5, AGA to AGG (both encoding for arginine, codon 260); and T/C polymorphism in intron 2. Polymorphisms were found in both groups.
Polymorphisms of SRD5A1 gene were the same in both hyperandrogenic and healthy women, indicating no significant associations of genetic polymorphisms/variations of SRD5A1 gene with clinical manifestations of hyperandrogenic disorders in women.</description><subject>3-Oxo-5-alpha-Steroid 4-Dehydrogenase - genetics</subject><subject>Adult</subject><subject>Bosnia and Herzegovina</subject><subject>Female</subject><subject>Humans</subject><subject>Hyperandrogenism - enzymology</subject><subject>Hyperandrogenism - genetics</subject><subject>Polymorphism, Genetic</subject><issn>0353-9504</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1j09LwzAcQHNQ3Jx-BcnJWyF_m-YoY05hsIuey2_Jry7SJjVpkX57BefpXR4P3hVZM6llZTVTK3JbyidjgilV35AVrzljxvA12e0xIoUI_VJCoamjZcKcgqeaQj-eocroZzdBQcppiPS8jJgh-pw-MAZHv9OA8Y5cd9AXvL9wQ96fd2_bl-pw3L9unw7VKJidKuO8N00jLQgmBavReIdac2caI7RxVvHaaNdJAR4YKORouACGunP8pEBuyONfd8zpa8YytUMoDvseIqa5tHWjjJXC_ooPF3E-DejbMYcB8tL-j8sf61hS0g</recordid><startdate>200508</startdate><enddate>200508</enddate><creator>Eminović, Izet</creator><creator>Komel, Radovan</creator><creator>Prezelj, Janez</creator><creator>Karamehić, Jasenko</creator><creator>Gavrankapetanović, Faris</creator><creator>Heljić, Becir</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200508</creationdate><title>Gene analysis of steroid 5 alpha-reductase 1 in hyperandrogenic women</title><author>Eminović, Izet ; Komel, Radovan ; Prezelj, Janez ; Karamehić, Jasenko ; Gavrankapetanović, Faris ; Heljić, Becir</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p209t-7cdd78839a203206e7dce551c787257c941675cf32ada0a4e1e712a0e5fc1b4a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>3-Oxo-5-alpha-Steroid 4-Dehydrogenase - genetics</topic><topic>Adult</topic><topic>Bosnia and Herzegovina</topic><topic>Female</topic><topic>Humans</topic><topic>Hyperandrogenism - enzymology</topic><topic>Hyperandrogenism - genetics</topic><topic>Polymorphism, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Eminović, Izet</creatorcontrib><creatorcontrib>Komel, Radovan</creatorcontrib><creatorcontrib>Prezelj, Janez</creatorcontrib><creatorcontrib>Karamehić, Jasenko</creatorcontrib><creatorcontrib>Gavrankapetanović, Faris</creatorcontrib><creatorcontrib>Heljić, Becir</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Croatian medical journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Eminović, Izet</au><au>Komel, Radovan</au><au>Prezelj, Janez</au><au>Karamehić, Jasenko</au><au>Gavrankapetanović, Faris</au><au>Heljić, Becir</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Gene analysis of steroid 5 alpha-reductase 1 in hyperandrogenic women</atitle><jtitle>Croatian medical journal</jtitle><addtitle>Croat Med J</addtitle><date>2005-08</date><risdate>2005</risdate><volume>46</volume><issue>4</issue><spage>664</spage><epage>669</epage><pages>664-669</pages><issn>0353-9504</issn><abstract>To examine the gene encoding for 5alpha-reductase type 1 in hyperandrogenic women, and assess the association of its eventual mutations or polymorphisms with the development of the hyperandrogenic female pattern.
Sixteen hyperandrogenic women were included in the study. Single-stranded conformation polymorphism analysis (SSCP) and DNA sequencing were performed after polymerase chain reaction amplification of each of the 5 exons of the SRD5A1 gene in both hyperandrogenic and control group (16 participants).
Sequence analysis identified the existence of many polymorphisms; in codon 24 of exon 1, GGC (Gly) into GAC (Asp); in codon 30 of exon 1, CGG (Arg) into CGC (Arg); in exon 3 codon 169, ACA to ACG (both encoding for threonine); in exon 5, AGA to AGG (both encoding for arginine, codon 260); and T/C polymorphism in intron 2. Polymorphisms were found in both groups.
Polymorphisms of SRD5A1 gene were the same in both hyperandrogenic and healthy women, indicating no significant associations of genetic polymorphisms/variations of SRD5A1 gene with clinical manifestations of hyperandrogenic disorders in women.</abstract><cop>Croatia</cop><pmid>16100771</pmid><tpages>6</tpages></addata></record> |
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| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - genetics Adult Bosnia and Herzegovina Female Humans Hyperandrogenism - enzymology Hyperandrogenism - genetics Polymorphism, Genetic |
| title | Gene analysis of steroid 5 alpha-reductase 1 in hyperandrogenic women |
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