{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:25:52Z","timestamp":1760729152552},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,4,29]],"date-time":"2002-04-29T00:00:00Z","timestamp":1020038400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neural tube defects (NTDs) are among the most common severely disabling birth defects in the United States, affecting approximately 1\u20132 of every 1,000 live births. The etiology of NTDs is multifactorial, involving the combined action of both genetic and environmental factors. A nonparametric linkage method, the transmission disequilibrium test (TDT), was utilized to determine if the genes in the <jats:italic>PAX<\/jats:italic> family play a role in the formation of NTDs. DNA from 459 spina bifida (SB) patients and their parents (430 mothers and 239 fathers, for a total population of 1,128 subjects) was tested for linkage and association utilizing polymorphic markers from within or very close to the <jats:italic>PAX<\/jats:italic> genes of interest. Significant findings were obtained for the following markers: marker locus D20S101 flanking the <jats:italic>PAX1<\/jats:italic> gene (<jats:italic>P<\/jats:italic>\u2009=\u20090.019), marker locus D1S228 within the <jats:italic>PAX7<\/jats:italic> gene (<jats:italic>P<\/jats:italic>\u2009=\u20090.011), and marker locus D2S110 within the <jats:italic>PAX8<\/jats:italic> gene (<jats:italic>P<\/jats:italic>\u2009=\u20090.013). Even though our findings are only mildly significant, given the known expression patterns of the <jats:italic>PAX<\/jats:italic> genes in development and the availability of their sequences, we elected to follow up these results by testing these genes directly for mutations utilizing single\u2010strand conformational analysis (SSCA) and direct sequencing. Multiple variations were detected in each of the <jats:italic>PAX<\/jats:italic> genes with significant TDT results; however, these variations were not passed from parent to child in phase with the positively transmitted allele. Therefore, it is unlikely that these variations contribute to susceptibility for SB, but rather are previously unreported polymorphisms. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10434","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T12:29:56Z","timestamp":1033907396000},"page":"195-202","source":"Crossref","is-referenced-by-count":19,"title":["Testing for genetic associations with the <i>PAX<\/i> gene family in a spina bifida population"],"prefix":"10.1002","volume":"110","author":[{"given":"K.A.","family":"Volcik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.H.","family":"Blanton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.C.","family":"Kruzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.T.","family":"Townsend","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.H.","family":"Tyerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.J.","family":"Mier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Northrup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,5,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.49.12.2190"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jez.1401270206"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(88)90039-6"},{"key":"e_1_2_6_5_1","first-page":"545","article-title":"Analysis 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