{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T20:46:45Z","timestamp":1792270005390,"version":"4.4.0"},"reference-count":34,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,11]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>The Huntington disease (HD) CAG repeat exhibits dramatic instability when transmitted to subsequent generations. The instability of the <jats:italic>HD<\/jats:italic> disease allele in male intergenerational transmissions is reflected in the variability of the CAG repeat in DNA from the sperm of male carriers of the <jats:italic>HD<\/jats:italic> gene.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>In this study, we used a collection of 112 sperm DNAs from male <jats:italic>HD<\/jats:italic> gene-positive members of a large Venezuelan cohort to investigate the factors associated with repeat instability. We confirm previous observations that CAG repeat length is the strongest predictor of repeat-length variability in sperm, but we did not find any correlation between CAG repeat instability and either age at the time of sperm donation or affectedness status. We also investigated transmission instability for 184 father\u2013offspring and 311 mother\u2013offspring pairs in this Venezuelan pedigree. Repeat-length changes were dependent upon the sex of the transmitting parent and parental CAG repeat length but not parental age or birth order. Unexpectedly, in maternal transmissions, repeat-length changes were also dependent upon the sex of the offspring, with a tendency for expansion in male offspring and contraction in female offspring.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion:<\/jats:title>\n                  <jats:p>Significant sibling\u2013sibling correlation for repeat instability suggests that genetic factors play a role in intergenerational CAG repeat instability.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2007.050930","type":"journal-article","created":{"date-parts":[[2007,7,27]],"date-time":"2007-07-27T21:27:41Z","timestamp":1185571661000},"page":"695-701","source":"Crossref","is-referenced-by-count":123,"title":["Factors associated with <i>HD<\/i> CAG repeat instability in Huntington disease"],"prefix":"10.1136","volume":"44","author":[{"given":"V C","family":"Wheeler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Persichetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S M","family":"McNeil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J S","family":"Mysore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S S","family":"Mysore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M E","family":"MacDonald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R H","family":"Myers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J F","family":"Gusella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N S","family":"Wexler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The US\u2013Venezuela Collaborative Research Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2007,7,27]]},"reference":[{"key":"2025100520242963000_44.11.695.1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90585-E"},{"key":"2025100520242963000_44.11.695.2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.5.775"},{"key":"2025100520242963000_44.11.695.3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.12.982"},{"key":"2025100520242963000_44.11.695.4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.12.2063"},{"key":"2025100520242963000_44.11.695.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng0494-409"},{"key":"2025100520242963000_44.11.695.6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.9.1519"},{"key":"2025100520242963000_44.11.695.7","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1111\/j.1399-0004.1995.tb03941.x","article-title":"Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington\u2019s disease.","volume":"47","author":"Norremolle","year":"1995","journal-title":"Clin Genet"},{"key":"2025100520242963000_44.11.695.8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.2.189"},{"key":"2025100520242963000_44.11.695.9","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-398"},{"key":"2025100520242963000_44.11.695.10","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-387"},{"key":"2025100520242963000_44.11.695.11","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.2.173"},{"key":"2025100520242963000_44.11.695.12","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0308679101"},{"key":"2025100520242963000_44.11.695.13","unstructured":"SAS Institute I. 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