Linkage Disequilibrium Between IDUA kpnI-VNTR Haplotype in Mexican Patients with MPS-I
The MPS-I is an autosomal recessive disorder caused by mutations in the IDUA gene that induce to a deficiency of glycosidase α-L-iduronidase that is required for degradation of heparan and dermatan sulfate. This disorder expresses a wide range of clinical symptoms. KpnI (K) and VNTR (V) intragenic p...
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| Veröffentlicht in: | Archives of medical research 1999-09, Vol.30 (5), p.375-379 |
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| creator | Gallegos-Arreola, Martha Rivas-Solis, Fernando Flores-Martı́nez, Silvia Zúñiga-González, Guillermo Sandoval-Ramı́rez, Lucila Cantú-Garza, Jóse Marı́a Ranaji, Chakraborty Figuera, Luis Morán-Moguel, Marı́a Cristina Corona, José Sánchez |
| description | The MPS-I is an autosomal recessive disorder caused by mutations in the IDUA gene that induce to a deficiency of glycosidase α-L-iduronidase that is required for degradation of heparan and dermatan sulfate. This disorder expresses a wide range of clinical symptoms.
KpnI (K) and VNTR (V) intragenic polymorphisms at the IDUA gene were studied in mestizo and Huichol Indian Mexican populations as well in 13 MPS-I patients. Data from Australian normal and MPS-I
(2–4) individuals were also studied.
Genotypes for IDUA K and V sites in Mexicans were in agreement with Hardy-Weinberg expectations, except for site K in Huichols. Individually, allele frequency distributions were different (
p |
| doi_str_mv | 10.1016/S0188-0128(99)00049-4 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_69351279</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0188012899000494</els_id><sourcerecordid>69351279</sourcerecordid><originalsourceid>FETCH-LOGICAL-c361t-95cc77a2a8d36120d4ba59be1f4314fd9b0045d1bd1235724cb24bc8d5fe03a03</originalsourceid><addsrcrecordid>eNqFkMtOwzAQRS0EouXxCSCvECwCdmIn8QpBC7RSC4gWtpZjT8A0TUKcUPr3pI8FO1ajkc6dqzkInVBySQkNryaExrFHqB-fC3FBCGHCYzuoS-Mo8DiLo13UXSOMEdFBB859tlDMwmgfdSjhImQ87KK3kc1n6h1w3zr4amxmk8o2c3wL9QIgx8P-6w2elfnQe3ucvuCBKrOiXpaAbY7H8GO1yvGzqi3ktcMLW3_g8fPEGx6hvVRlDo638xC93t9NewNv9PQw7N2MPB2EtPYE1zqKlK9i0-4-MSxRXCRAUxZQlhqRtH9xQxND_YBHPtOJzxIdG54CCRQJDtHZ5m5ZFV8NuFrOrdOQZSqHonEyFAGnfiRakG9AXRXOVZDKsrJzVS0lJXIlVK6FypVQKYRcC5WszZ1uC5pkDuZPamOwBa43ALRvfluopNOtDQ3GVqBraQr7T8UvRTiEGw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>69351279</pqid></control><display><type>article</type><title>Linkage Disequilibrium Between IDUA kpnI-VNTR Haplotype in Mexican Patients with MPS-I</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals</source><creator>Gallegos-Arreola, Martha ; Rivas-Solis, Fernando ; Flores-Martı́nez, Silvia ; Zúñiga-González, Guillermo ; Sandoval-Ramı́rez, Lucila ; Cantú-Garza, Jóse Marı́a ; Ranaji, Chakraborty ; Figuera, Luis ; Morán-Moguel, Marı́a Cristina ; Corona, José Sánchez</creator><creatorcontrib>Gallegos-Arreola, Martha ; Rivas-Solis, Fernando ; Flores-Martı́nez, Silvia ; Zúñiga-González, Guillermo ; Sandoval-Ramı́rez, Lucila ; Cantú-Garza, Jóse Marı́a ; Ranaji, Chakraborty ; Figuera, Luis ; Morán-Moguel, Marı́a Cristina ; Corona, José Sánchez</creatorcontrib><description>The MPS-I is an autosomal recessive disorder caused by mutations in the IDUA gene that induce to a deficiency of glycosidase α-L-iduronidase that is required for degradation of heparan and dermatan sulfate. This disorder expresses a wide range of clinical symptoms.
KpnI (K) and VNTR (V) intragenic polymorphisms at the IDUA gene were studied in mestizo and Huichol Indian Mexican populations as well in 13 MPS-I patients. Data from Australian normal and MPS-I
(2–4) individuals were also studied.
Genotypes for IDUA K and V sites in Mexicans were in agreement with Hardy-Weinberg expectations, except for site K in Huichols. Individually, allele frequency distributions were different (
p <0.05) in the two normal groups for the V site. K-V haplotype frequency distributions (HFDs) in these two normal groups were also different as compared with normal Australians. In Mexican MPS-I patients, HFD was different (
p <0.05) with respect to both Mexican normal groups, and non-different when compared with normal or MPS-I Australians. This can be taken as evidence of linkage disequilibrium between K-V polymorphism and MPS-I gene mutation(s) at the IDUA region. A similar finding was reported. However, disequilibrium in Mexicans was determined by haplotypes different from those in Australia. In Mexican MPS-I patients, haplotype K2-V1 is increased and K1-V3 decreased with respect to the Mexican mestizo (
p <0.05), while in Australians, MPS-I patients had an increase of haplotypes K2-V2 and K1-V2 with respect to expected frequency.
The similar HFD between Mexican and Australian MPS-I patients suggests a common genetic origin, that MPS-I mutations were introduced to Mexico by Spaniards, and that such mutations predate the dispersion between Mexican and Australian Caucasian ancestors. The differences in disequilibrium are explained rather by genetic drift.</description><identifier>ISSN: 0188-4409</identifier><identifier>EISSN: 1873-5487</identifier><identifier>DOI: 10.1016/S0188-0128(99)00049-4</identifier><identifier>PMID: 10596456</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Base Sequence ; Deoxyribonucleases, Type II Site-Specific ; DNA Primers ; Gene frequency ; Haplotypes ; IDUA ; Kpn I ; Linkage Disequilibrium ; Mexico ; Minisatellite Repeats ; MPS-I ; Mucopolysaccharidosis I - ethnology ; Mucopolysaccharidosis I - genetics ; VNTR</subject><ispartof>Archives of medical research, 1999-09, Vol.30 (5), p.375-379</ispartof><rights>1999 IMSS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c361t-95cc77a2a8d36120d4ba59be1f4314fd9b0045d1bd1235724cb24bc8d5fe03a03</citedby><cites>FETCH-LOGICAL-c361t-95cc77a2a8d36120d4ba59be1f4314fd9b0045d1bd1235724cb24bc8d5fe03a03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0188012899000494$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10596456$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gallegos-Arreola, Martha</creatorcontrib><creatorcontrib>Rivas-Solis, Fernando</creatorcontrib><creatorcontrib>Flores-Martı́nez, Silvia</creatorcontrib><creatorcontrib>Zúñiga-González, Guillermo</creatorcontrib><creatorcontrib>Sandoval-Ramı́rez, Lucila</creatorcontrib><creatorcontrib>Cantú-Garza, Jóse Marı́a</creatorcontrib><creatorcontrib>Ranaji, Chakraborty</creatorcontrib><creatorcontrib>Figuera, Luis</creatorcontrib><creatorcontrib>Morán-Moguel, Marı́a Cristina</creatorcontrib><creatorcontrib>Corona, José Sánchez</creatorcontrib><title>Linkage Disequilibrium Between IDUA kpnI-VNTR Haplotype in Mexican Patients with MPS-I</title><title>Archives of medical research</title><addtitle>Arch Med Res</addtitle><description>The MPS-I is an autosomal recessive disorder caused by mutations in the IDUA gene that induce to a deficiency of glycosidase α-L-iduronidase that is required for degradation of heparan and dermatan sulfate. This disorder expresses a wide range of clinical symptoms.
KpnI (K) and VNTR (V) intragenic polymorphisms at the IDUA gene were studied in mestizo and Huichol Indian Mexican populations as well in 13 MPS-I patients. Data from Australian normal and MPS-I
(2–4) individuals were also studied.
Genotypes for IDUA K and V sites in Mexicans were in agreement with Hardy-Weinberg expectations, except for site K in Huichols. Individually, allele frequency distributions were different (
p <0.05) in the two normal groups for the V site. K-V haplotype frequency distributions (HFDs) in these two normal groups were also different as compared with normal Australians. In Mexican MPS-I patients, HFD was different (
p <0.05) with respect to both Mexican normal groups, and non-different when compared with normal or MPS-I Australians. This can be taken as evidence of linkage disequilibrium between K-V polymorphism and MPS-I gene mutation(s) at the IDUA region. A similar finding was reported. However, disequilibrium in Mexicans was determined by haplotypes different from those in Australia. In Mexican MPS-I patients, haplotype K2-V1 is increased and K1-V3 decreased with respect to the Mexican mestizo (
p <0.05), while in Australians, MPS-I patients had an increase of haplotypes K2-V2 and K1-V2 with respect to expected frequency.
The similar HFD between Mexican and Australian MPS-I patients suggests a common genetic origin, that MPS-I mutations were introduced to Mexico by Spaniards, and that such mutations predate the dispersion between Mexican and Australian Caucasian ancestors. The differences in disequilibrium are explained rather by genetic drift.</description><subject>Base Sequence</subject><subject>Deoxyribonucleases, Type II Site-Specific</subject><subject>DNA Primers</subject><subject>Gene frequency</subject><subject>Haplotypes</subject><subject>IDUA</subject><subject>Kpn I</subject><subject>Linkage Disequilibrium</subject><subject>Mexico</subject><subject>Minisatellite Repeats</subject><subject>MPS-I</subject><subject>Mucopolysaccharidosis I - ethnology</subject><subject>Mucopolysaccharidosis I - genetics</subject><subject>VNTR</subject><issn>0188-4409</issn><issn>1873-5487</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMtOwzAQRS0EouXxCSCvECwCdmIn8QpBC7RSC4gWtpZjT8A0TUKcUPr3pI8FO1ajkc6dqzkInVBySQkNryaExrFHqB-fC3FBCGHCYzuoS-Mo8DiLo13UXSOMEdFBB859tlDMwmgfdSjhImQ87KK3kc1n6h1w3zr4amxmk8o2c3wL9QIgx8P-6w2elfnQe3ucvuCBKrOiXpaAbY7H8GO1yvGzqi3ktcMLW3_g8fPEGx6hvVRlDo638xC93t9NewNv9PQw7N2MPB2EtPYE1zqKlK9i0-4-MSxRXCRAUxZQlhqRtH9xQxND_YBHPtOJzxIdG54CCRQJDtHZ5m5ZFV8NuFrOrdOQZSqHonEyFAGnfiRakG9AXRXOVZDKsrJzVS0lJXIlVK6FypVQKYRcC5WszZ1uC5pkDuZPamOwBa43ALRvfluopNOtDQ3GVqBraQr7T8UvRTiEGw</recordid><startdate>19990901</startdate><enddate>19990901</enddate><creator>Gallegos-Arreola, Martha</creator><creator>Rivas-Solis, Fernando</creator><creator>Flores-Martı́nez, Silvia</creator><creator>Zúñiga-González, Guillermo</creator><creator>Sandoval-Ramı́rez, Lucila</creator><creator>Cantú-Garza, Jóse Marı́a</creator><creator>Ranaji, Chakraborty</creator><creator>Figuera, Luis</creator><creator>Morán-Moguel, Marı́a Cristina</creator><creator>Corona, José Sánchez</creator><general>Elsevier Inc</general><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>19990901</creationdate><title>Linkage Disequilibrium Between IDUA kpnI-VNTR Haplotype in Mexican Patients with MPS-I</title><author>Gallegos-Arreola, Martha ; Rivas-Solis, Fernando ; Flores-Martı́nez, Silvia ; Zúñiga-González, Guillermo ; Sandoval-Ramı́rez, Lucila ; Cantú-Garza, Jóse Marı́a ; Ranaji, Chakraborty ; Figuera, Luis ; Morán-Moguel, Marı́a Cristina ; Corona, José Sánchez</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c361t-95cc77a2a8d36120d4ba59be1f4314fd9b0045d1bd1235724cb24bc8d5fe03a03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Base Sequence</topic><topic>Deoxyribonucleases, Type II Site-Specific</topic><topic>DNA Primers</topic><topic>Gene frequency</topic><topic>Haplotypes</topic><topic>IDUA</topic><topic>Kpn I</topic><topic>Linkage Disequilibrium</topic><topic>Mexico</topic><topic>Minisatellite Repeats</topic><topic>MPS-I</topic><topic>Mucopolysaccharidosis I - ethnology</topic><topic>Mucopolysaccharidosis I - genetics</topic><topic>VNTR</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gallegos-Arreola, Martha</creatorcontrib><creatorcontrib>Rivas-Solis, Fernando</creatorcontrib><creatorcontrib>Flores-Martı́nez, Silvia</creatorcontrib><creatorcontrib>Zúñiga-González, Guillermo</creatorcontrib><creatorcontrib>Sandoval-Ramı́rez, Lucila</creatorcontrib><creatorcontrib>Cantú-Garza, Jóse Marı́a</creatorcontrib><creatorcontrib>Ranaji, Chakraborty</creatorcontrib><creatorcontrib>Figuera, Luis</creatorcontrib><creatorcontrib>Morán-Moguel, Marı́a Cristina</creatorcontrib><creatorcontrib>Corona, José Sánchez</creatorcontrib><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>Archives of medical research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gallegos-Arreola, Martha</au><au>Rivas-Solis, Fernando</au><au>Flores-Martı́nez, Silvia</au><au>Zúñiga-González, Guillermo</au><au>Sandoval-Ramı́rez, Lucila</au><au>Cantú-Garza, Jóse Marı́a</au><au>Ranaji, Chakraborty</au><au>Figuera, Luis</au><au>Morán-Moguel, Marı́a Cristina</au><au>Corona, José Sánchez</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Linkage Disequilibrium Between IDUA kpnI-VNTR Haplotype in Mexican Patients with MPS-I</atitle><jtitle>Archives of medical research</jtitle><addtitle>Arch Med Res</addtitle><date>1999-09-01</date><risdate>1999</risdate><volume>30</volume><issue>5</issue><spage>375</spage><epage>379</epage><pages>375-379</pages><issn>0188-4409</issn><eissn>1873-5487</eissn><abstract>The MPS-I is an autosomal recessive disorder caused by mutations in the IDUA gene that induce to a deficiency of glycosidase α-L-iduronidase that is required for degradation of heparan and dermatan sulfate. This disorder expresses a wide range of clinical symptoms.
KpnI (K) and VNTR (V) intragenic polymorphisms at the IDUA gene were studied in mestizo and Huichol Indian Mexican populations as well in 13 MPS-I patients. Data from Australian normal and MPS-I
(2–4) individuals were also studied.
Genotypes for IDUA K and V sites in Mexicans were in agreement with Hardy-Weinberg expectations, except for site K in Huichols. Individually, allele frequency distributions were different (
p <0.05) in the two normal groups for the V site. K-V haplotype frequency distributions (HFDs) in these two normal groups were also different as compared with normal Australians. In Mexican MPS-I patients, HFD was different (
p <0.05) with respect to both Mexican normal groups, and non-different when compared with normal or MPS-I Australians. This can be taken as evidence of linkage disequilibrium between K-V polymorphism and MPS-I gene mutation(s) at the IDUA region. A similar finding was reported. However, disequilibrium in Mexicans was determined by haplotypes different from those in Australia. In Mexican MPS-I patients, haplotype K2-V1 is increased and K1-V3 decreased with respect to the Mexican mestizo (
p <0.05), while in Australians, MPS-I patients had an increase of haplotypes K2-V2 and K1-V2 with respect to expected frequency.
The similar HFD between Mexican and Australian MPS-I patients suggests a common genetic origin, that MPS-I mutations were introduced to Mexico by Spaniards, and that such mutations predate the dispersion between Mexican and Australian Caucasian ancestors. The differences in disequilibrium are explained rather by genetic drift.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>10596456</pmid><doi>10.1016/S0188-0128(99)00049-4</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0188-4409 |
| ispartof | Archives of medical research, 1999-09, Vol.30 (5), p.375-379 |
| issn | 0188-4409 1873-5487 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_69351279 |
| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Base Sequence Deoxyribonucleases, Type II Site-Specific DNA Primers Gene frequency Haplotypes IDUA Kpn I Linkage Disequilibrium Mexico Minisatellite Repeats MPS-I Mucopolysaccharidosis I - ethnology Mucopolysaccharidosis I - genetics VNTR |
| title | Linkage Disequilibrium Between IDUA kpnI-VNTR Haplotype in Mexican Patients with MPS-I |
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