Abstract:
:The gene responsible for X-linked cleft palate and ankyloglossia (CPX) has previously been localized to the proximal region of the q arm of the X chromosome in both Icelandic and North American Indian kindreds. In this study, further linkage analysis has been performed on the Icelandic family and has resulted in a significant reduction in the size of the interval containing the mutated gene. A new polymorphism at DXS95, together with DXS1002 and DXS349, defines the proximal boundary of the CPX interval, whereas DXYS1X defines the distal boundary. Multipoint analysis supports this localisation with a peak lod score of 12.7, more than 2 lod score units higher than the next most likely position. In order to assess the physical size of the CPX interval prior to initiating yeast artificial chromosome cloning, metaphase fluorescence in situ hybridisation analysis was performed with the closest flanking markers. The size of the interval between DXS95 and DXYS1X was estimated to be approximately 2-3 Mb.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Forbes SA,Richardson M,Brennan L,Arnason A,Bjornsson A,Campbell L,Moore G,Stanier Pdoi
10.1007/BF00225205subject
Has Abstractpub_date
1995-03-01 00:00:00pages
342-6issue
3eissn
0340-6717issn
1432-1203journal_volume
95pub_type
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