Multipoint linkage analysis in X-linked Alport syndrome |
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Authors: | Jens Michael Hertz Torben A Kruse Anette Thomsen Edwin S Spencer |
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Institution: | (1) Institute of Human Genetics, The Bartholin Building, University of Aarhus, DK-8000 Aarhus C, Denmark;(2) Department of Nephrology, Skejby Sygehus, DK-8200 Aarhus N., Denmark |
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Abstract: | Summary In order to localize the gene for the X-linked form of Alport syndrome (ATS) more precisely, we performed restriction fragment length polymorphism analysis with nine different X-chromosomal DNA markers in 107 members of twelve Danish families segregating for classic ATS or progressive hereditary nephritis without deafness. Two-point linkage analysis confirmed close linkage to the markers DXS17(S21) (Z
max = 4.44 at = 0.04), DXS94(pXG-12) (Z
max=8.07 at =0.04), and DXS101(cX52.5) (Z
max=6.04 at =0.00), and revealed close linkage to two other markers: DXS88(pG3-1) (Z
max =6.36 at =0.00) and DXS11(p22–33) (z
max=3.45 at =0.00). Multipoint linkage analysis has mapped the gene to the region between the markers DXS17 and DXS94, closely linked to DXS101. By taking into account the consensus map and results from other studies, the most probable order of the loci is: DXYS1(pDP34)-DXS3(p19-2)-DXS17-(ATS, DXS101)-DXS94-DXS11-DXS42(p43-15)-DXS51(52A). DXS88 was found to be located between DXS17 and DXS42, but the order in relation to the ATS locus and the other markers used in this study could not be determined. |
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