{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T23:15:24Z","timestamp":1778022924797,"version":"3.51.4"},"reference-count":18,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,11]]},"abstract":"<jats:p>The X linked form of Kallmann syndrome (KAL) and X linked ocular albinism (OA1) have both been mapped to Xp22.3. We have used a dinucleotide repeat polymorphism at the Kallmann locus to type 17 X linked ocular albinism families which had previously been typed for the Xg blood group (XG) and the DNA markers DXS237 (GMGX9), DXS143 (dic56), and DXS85 (782). Close linkage was found between KAL and OA1 with a maximum lod score (Zmax) of 30.14 at a recombination fraction (theta max) of 0.06 (confidence interval for theta: 0.03-0.10). KAL was also closely linked to DXS237 (Zmax = 15.32; theta max = 0.05; CI 0.02-0.12) and DXS143 (Zmax = 14.57; theta max = 0.05; CI 0.02-0.13). There was looser linkage to the Xg blood group (XG) and to DXS85 (782). Multipoint linkage analysis gave the map: Xpter-XG-0.13-DXS237-0.025-KAL-0.025-DXS143-0.01 5-OA1-0.09-DXS85-Xcen. Placement of OA1 proximal to DXS143 was supported by odds of 2300:1 compared to other orders. This confirms our previous localisation of OA1 and improves the genetic mapping of both disease loci.<\/jats:p>","DOI":"10.1136\/jmg.30.11.923","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"923-925","source":"Crossref","is-referenced-by-count":5,"title":["Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci."],"prefix":"10.1136","volume":"30","author":[{"given":"Y","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"McMahon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S J","family":"Charles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J S","family":"Green","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A T","family":"Moore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D E","family":"Barton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J R","family":"Yates","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,11,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1136\/bjo.77.4.222","article-title":"Clinical features of affected males with X linked ocular albinism","volume":"77","author":"Charles, S.J.; Green, J.S.; Grant, J.W.","year":"1993","unstructured":"Charles SJ, Green JS, Grant JW, et al. Clinical features of affected males with X linked ocular albinism. Br J Ophthalmol 1993;77:222-7.","journal-title":"Br J Ophthalmol"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/eye.1992.15","article-title":"Genetic counselling in X linked ocular albinism: clinical features of the carrier state","volume":"6","author":"Charles, S.J.; Moore, A.T.; Grant, J.W.; Yates, J.R.W.","year":"1992","unstructured":"Charles SJ, Moore AT, Grant JW, Yates JRW. Genetic counselling in X linked ocular albinism: clinical features of the carrier state. Eye 1992;6:75-9.","journal-title":"Eye"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/0888-7543(91)90353-G","article-title":"Linkage analysis in X linked ocular albinism","volume":"9","author":"Schnur, R.E.; Nussbaum, R.L.; Anson-Cartwright, L.","year":"1991","unstructured":"Schnur RE, Nussbaum RL, Anson-Cartwright L, et al. Linkage analysis in X linked ocular albinism. 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J Med Genet 1992;29:552-4.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1006\/geno.1993.1171","article-title":"Genetic mapping of X linked ocular albinism: linkage analysis in a large Newfoundland kindred","volume":"16","author":"Charles, S.J.; Green, J.S.; Moore, A.T.","year":"1993","unstructured":"Charles SJ, Green JS, Moore AT, et al. Genetic mapping of X linked ocular albinism: linkage analysis in a large Newfoundland kindred. Genomics 1993;16:259-61.","journal-title":"Genomics"},{"key":"ref_7","first-page":"10001","article-title":"Contiguous gene syndromes due to deletions in the distal short arm","volume-title":"of the human X chromosome. Proc Natl Acad Sci","volume":"86","author":"Ballabio, A.; Bardoni, B.; Carrozzo, R.","year":"1989","unstructured":"Ballabio A, Bardoni B, Carrozzo R, et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 1989;86: 10001-5."},{"key":"ref_8","first-page":"3680","article-title":"Long-range restriction map of the terminal part of the short arm","volume-title":"of the human X chromosome. Proc Natl Acad Sci","volume":"87","author":"Petit, C.; Levilliers, J.; Weissenbach, J.","year":"1990","unstructured":"Petit C, Levilliers J, Weissenbach J. Long-range restriction map of the terminal part of the short arm of the human X chromosome. Proc Natl Acad Sci USA 1990;87:3680-4."},{"key":"ref_9","first-page":"664","article-title":"Definitive localisation of X linked Kallmann syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22. 3: close linkage to the hypervariable repeat sequence CRI-S232","volume":"47","author":"Meitinger, T.; Heye, B.; Petit, C.","year":"1990","unstructured":"Meitinger T, Heye B, Petit C, et al. Definitive localisation of X linked Kallmann syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. Am J Hum Genet 1990;47:664-9.","journal-title":"Am J Hum Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"5453","DOI":"10.1093\/nar\/19.19.5453","article-title":"A dinucleotide repeat polymorphism at the Kallmann locus (Xp22.3)","volume":"19","author":"Bouloux, P.M.G.; Hardelin, J.P.; Munroe, P.","year":"1991","unstructured":"Bouloux PMG, Hardelin JP, Munroe P, et al. A dinucleotide repeat polymorphism at the Kallmann locus (Xp22.3). Nucleic Acids Res 1991;19:5453.","journal-title":"Nucleic Acids Res"},{"key":"ref_11","first-page":"588","article-title":"Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies","volume":"26","author":"Ott, J.","year":"1974","unstructured":"Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. AmJ Hum Genet 1974;26:588-97.","journal-title":"AmJ Hum Genet"},{"key":"ref_12","first-page":"3443","article-title":"Strategies for multilocus linkage","volume-title":"analysis in humans. Proc Natl Acad Sci USA","volume":"81","author":"Lathrop, G.M.; Lalouel, J.M.; Julier, C.; Ott, J.","year":"1984","unstructured":"Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-6."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1159\/000132186","article-title":"Report of the committee on methods of linkage analysis and reporting. HGM8","volume":"40","author":"Conneally, P.M.; Edwards, J.H.; Kidd, K.K.","year":"1985","unstructured":"Conneally PM, Edwards JH, Kidd KK, et al. Report of the committee on methods of linkage analysis and reporting. HGM8. Cytogenet Cell Genet 1985;40:356-9.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/0888-7543(87)90104-2","article-title":"Multipoint linkage analysis of steroid sulphatase (X linked ichthyosis) and distal Xp markers","volume":"1","author":"Yates, J.R.W.; Goudie, D.R.; Gillard, E.F.","year":"1987","unstructured":"Yates JRW, Goudie DR, Gillard EF, et al. Multipoint linkage analysis of steroid sulphatase (X linked ichthyosis) and distal Xp markers. Genomics 1987;1:52-9.","journal-title":"Genomics"},{"key":"ref_15","first-page":"4235","article-title":"The candidate gene for the X linked Kallmann syndrome encodes a protein related to adhesion molecules","volume":"67","author":"Legouis, R.; Hardelin, J.-P.; Levilliers, J.","year":"1991","unstructured":"Legouis R, Hardelin J-P, Levilliers J, et al. The candidate gene for the X linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 1991;67:4235.","journal-title":"Cell"},{"key":"ref_16","first-page":"8190","article-title":"X chromosomelinked Kallmann syndrome: stop mutations validate","volume-title":"the candidate gene. Proc Natl Acad Sci USA","volume":"89","author":"Hardelin, J.P.; Levilliers, J.; Castillo, I.","year":"1992","unstructured":"Hardelin JP, Levilliers J, Castillo I, et al. X chromosomelinked Kallmann syndrome: stop mutations validate the candidate gene. Proc Natl Acad Sci USA 1992;89:8190-4."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/353529a0","article-title":"A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal pathfinding molecules","volume":"353","author":"Franco, B.; Guioli, S.; Pragliola, A.","year":"1991","unstructured":"Franco B, Guioli S, Pragliola A, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal pathfinding molecules. Nature 1991;353:529-36.","journal-title":"Nature"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1006\/geno.1993.1176","article-title":"Refinement of the localization of the X linked ocular albinism gene","volume":"16","author":"Bergen, A.A.B.; Zijp, P.; Schuurman, E.J.M.; Bleeker-Wagemakers, E.M.; Apkarian, P.; van Ommen, G.-J.B.","year":"1993","unstructured":"Bergen AAB, Zijp P, Schuurman EJM, Bleeker-Wagemakers EM, Apkarian P, van Ommen G-JB. Refinement of the localization of the X linked ocular albinism gene. 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