Genetic and physical mapping around the properdin P gene

Coleman, M. P., Murray, J. C., Willard, H. F., Nolan, K. F., Reid, K. B. M., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Lindsay, S., Bhattacharya, S. S., Wright, A. and Davies, K. E. 1991. Genetic and physical mapping around the properdin P gene. Genomics 11 (4) , pp. 991-996. 10.1016/0888-7543(91)90024-9

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Abstract

A CA repeat has been found on the human X chromosome within 16 kb of the gene encoding properdin P factor (PFC) and has been shown to be a highly informative marker. Two more polymorphic CA repeats were found in a cosmid containing DXS228. The CA repeats, and other markers from proximal Xp, were mapped genetically in CEPH families and the likely order of markers was established as Xpter-(DXS7, MAO-A, DXS228)-(PFC, DXS426)-(TIMP, OATL1)-DXS255-Xcen. This places PFC in the region Xp11.3–Xp11.23, thus refining previous in situ hybridization data. Two yeast artificial chromosomes (YACs) (440 and 390 kb) contain both PFC and DXS426, and one of them (440 kb) also contains TIMP. This confirms the genetic order TIMP-(PFC, DXS426). PFC and TIMP are located on the same 100-kb View the MathML source fragment of the 440-kb YAC. Given the genetic orientation of TIMP and (PFC, DXS426), this YAC can now serve as a starting point for directional walking toward disease genes located in Xp11.3–Xp11.2 such as retinitis pigmentosa (RP2) and Wiskott-Aldrich syndrome.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Elsevier
ISSN:	0888-7543
Last Modified:	25 Oct 2022 08:15
URI:	https://orca.cardiff.ac.uk/id/eprint/52044

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