Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: KEGG:D06390 (Azithromycin)
 1,218 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Genetic linkage studies were performed in 16 British families affected by X linked ocular albinism (XLOA) using RFLPs from the Xp22.3 region. Linkage was confirmed between the XLOA locus (OA1) and the loci DXS143 (dic56; Zmax = 15.90 at theta = 0.0, confidence interval (CI) 0-0.035), DXS85 (782; Zmax = 15.67 at theta = 0.04, CI = 0.007-0.11), and DXS237 (GMGX9; Zmax = 12.65 at theta = 0.08, CI = 0.03-0.17). Multipoint linkage analysis placed OA1 between DXS85 (782) and DXS237 (GMGX9) with odds exceeding 10(4):1 to give the map DXS85-(OA1,DXS143)-DXS237-XG-Xpter. OA1 lies close to DXS143 (dic56) but in the absence of recombinants the order of these loci could not be determined.
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PMID:Genetic mapping of X linked ocular albinism: linkage analysis in British families. 135 60

Linkage analysis was performed in six families segregating for X-linked ocular albinism of the Nettleship-Falls type using four polymorphic DNA markers from the distal Xp. Linkage was found between the disease locus (OA1) and the loci DXS237 (theta max = 0.06, Zmax = 2.82), DXS278 (theta max = 0.03, Zmax = 5.27) and DXS16 (theta max = 0.10, Zmax = 2.33). The analysis of multiple informative meioses suggests that OA1 maps between DXS278/DXS237 and DXS143/DXS16. Multipoint linkage analysis slightly favours the order DXS278/DXS237-OA1-DXS16. These data refine the genetic localization of OA1 and may be useful for carrier detection in X-linked ocular albinism by DNA analysis.
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PMID:Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis. 228 Sep 73

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.
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PMID:Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. 830 46

Genetic linkage studies in a large Newfoundland family affected by X-linked ocular albinism (OA1) showed linkage to markers from Xp22.3. One recombinant mapped the disease proximal to DXS143 (dic56) and two recombinants mapped the disease distal to DXS85 (782). Combining the data with that from 16 British families previously published confirmed close linkage between OA1 and DXS143 (dic56; Zmax = 21.96 at theta = 0.01, confidence interval (CI) 0.0005-0.05) and linkage to DXS85 (782; Zmax = 17.60 at theta = 0.07, CI = 0.03-0.13) and DXS237 (GMGX9; Zmax = 15.20 at theta = 0.08, CI = 0.03-0.15). Multipoint analysis (LINKMAP) gave the most likely order as Xpter-XG-DXS237-DXS 143-OA1-DXS85, with odds of 48:1 over the order Xpter-XG-DXS237-OA1-DXS143-DXS85, and odds exceeding 10(10):1 over other locations for the disease locus.
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PMID:Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred. 848 68