three rflps for pz11 (dxs540) in the choroideremia gene at xq21.2

1434 Nucleic Acids Research, Vol. 20, No. 6 Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2 C.M.Molloy, T.J.R.van de Pol, R.M.Brohet, H.-H.Ropers and F.P.M.Cremers* Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands Source and Description: pZl la/b (DXS540) consists of 1.2 and 4.2 kb Eco91 fragments which are located next to each other in the middle of the choroideremia gene at Xq21.2. pZl la (1.2 kb EcoRT) is a single-copy fragment. pZllb (4.2 kb £coRI) contains a repetitive sequence. pZ 1 lc is a 1.6 kb EcoRl/Sau3M fragment of pZllb subcloned in pUC18 (EcoRUBamYH). pZll was isolated from a lambdaZAP library which was enriched for sequences from a 625 kb Sfil fragment known to span the choroideremia gene (1). Polymorphisms: pZl la identifies two-allele polymorphisms with EcoKV and Mspl, pZllc identifies a two-allele polymorphism with EcoRl. Probe pZlla pZlla pZllc REN EcoRV Mspl EcoRl Size(kb) 7.3 5.3 7.5 16.5 4.5 4.2 Allele Bl B2 Cl C2 Al Frequency 0.53 0.47 0.69 0.31 0.64 A2 X-chromosotnes 62 45 62 0.36 Not Polymorphic For. BamHl, BglE, Taql, Hindm and Pstl with pooled DNA of 5 unrelated females. Chromosomal Localization: The probe was localized to Xq21.2 by means of deletion analysis (1,2). Mendelian Inheritance: X-linked segregation of the polymorphic alleles was observed in 3 Caucasian families. Probe Availability: Available on a collaborative basis from F.P.M.Cremers. References: 1) van de Pol.T.J.R. et al. (1990) Nucleic. Acids. Res. 18, 725-731. 2) Cremers.F.P.M. et al. (1990) Am. J. Hum. Genet. 47, 622-628. * To whom correspondence should be addressed at York University Libraries on November 19, 2014 http://nar.oxfordjournals.org/ Downloaded from

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Page 1: Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2

1434 Nucleic Acids Research, Vol. 20, No. 6

Three RFLPs for pZ11 (DXS540) inthe choroideremia gene at Xq21.2C.M.Molloy, T.J.R.van de Pol, R.M.Brohet, H.-H.Ropersand F.P.M.Cremers*Department of Human Genetics, University HospitalNijmegen, PO Box 9101, 6500 HB Nijmegen, TheNetherlands

Source and Description: pZl la/b (DXS540) consists of 1.2 and4.2 kb Eco91 fragments which are located next to each otherin the middle of the choroideremia gene at Xq21.2. pZl la (1.2kb EcoRT) is a single-copy fragment. pZllb (4.2 kb £coRI)contains a repetitive sequence. pZ 1 lc is a 1.6 kb EcoRl/Sau3Mfragment of pZllb subcloned in pUC18 (EcoRUBamYH). pZllwas isolated from a lambdaZAP library which was enriched forsequences from a 625 kb Sfil fragment known to span thechoroideremia gene (1).

Polymorphisms: pZl la identifies two-allele polymorphisms withEcoKV and Mspl, pZllc identifies a two-allele polymorphismwith EcoRl.ProbepZlla

pZlla

pZllc

RENEcoRV

Mspl

EcoRl

Size(kb)7.35.37.516.54.54.2

AlleleBlB2ClC2Al

Frequency0.530.470.690.310.64A2

X-chromosotnes62

620.36

Not Polymorphic For. BamHl, BglE, Taql, Hindm and Pstl withpooled DNA of 5 unrelated females.