Kunze, N.

Liechti-Gallati, S.

Moser, H.

Raveh, J.

Sander, A.K.

Zingg, M.

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288 Human Molecular Genetics, Vol. 1, No. 4 © 1992 Oxford University PressAn EcoRI polymorphism for theglutaminyl-tRNA synthetase (QARS)gene on chromosome 1qA.K.Sander*, S.Uechti-Gallati1, N.Kunze2, H.Moser1,M.Zingg and J.RavenDivision of Craniomaxillofacial Surgery, Department ofOtolaryngology, University of Berne, 1 Medical GeneticsUnit and Molecular Genetics Laboratory, Department ofPediatrics, Inselspital, University of Berne, CH 3010Berne, Switzerland and 2Faculty of Biology, University ofKonstanz, PO box 5560, 7750 Konstanz, GermanyRFLP detected by a genomicprobe from the human X-linkedproteolipid protein gene, PLPWendy H.Raskind1, John Wolff1, Lynn D.Hudson2 andThomas D.Bird131 Department of Medicine, University of WashingtonSchool of Medicine, Seattle, WA 98195, 2Laboratory ofViral and Molecular Pathogenesis, National Institute ofNeurological Disorders and Stroke, National Institutes ofHealth, Bethesda, MD and 3Division of Neurology,Veteran's Affairs Hospital, Seattle, WA, USASource/Description: A 480 bp EcoRI—HindUl restrictionfragment (Pz480), isolated from the GlnRS-specific Pz-cDNA(coding for the central core region of the GlnRS-enzyme) (1)cloned into the £coRI-site of pUC9.Polymorphism: £coRI detects polymorphic fragments of 6.5 kb(Al) and 3.5 kb (A2).Frequency: The allele frequencies were determined by typing 47unrelated European Caucasians.Enzyme Allele Fragment Size Frequency6.5 kb 0.25EcoRI AlA2 3.5 kb 0.75Chromosomal Localization: QARS was mapped to Iq32 -42 bySouthern blot analysis of somatic cell hybrid lines and in situchromosomal hybridization (2).Mendelian Inheritance: Co-dominant segregation was observedin one large three-generation kindred, another three three-generation families and in three two-generation families with atotal of 46 children.Probe Availability: Available from N.Kunze.References: 1) Thommes.P., Fett.R., Schray.B., Kunze.N. andKnippers,R. (1988) Nucleic Acids Res. 16, 5391-5406. 2)Kunze.N., Bittler.E., Fett.R., Schray,B., Hameister.H.,Wiedorn,K.H. and Knippers.R. (1990) Hum. Genet. 85,527-530.• To whom correspondence should be addressed at NordwestdeutscheKieferklinik, Clinic of Oro-Maxillo-Facial Surgery, Martinistrasse 52,2000 Hamburg, GermanySource/Description: Probe pJBOlO is a 4.2 kb Sall-BamHIgenomic fragment cloned in pTZ19R, that contains the promotorand upstream regulatory elements of the PLP gene and extendsinto the first exon (1,2).Polymorphism: A restriction fragment polymorphism with alleles2.7 kb (Al) and 2.6 kb (A2) is identified by Mspl (5'-CCGG-3')digestion.Frequency: Cl: 0.65, C2: 0.35Observed Heterozygosity: 0.46; studied in 114 unrelated Xchromosomes in Caucasians.Chromosomal Localisation: The human PLP gene maps toXq21.3-<j22 (3).Mendelian Inheritance: X-linked recessive inheritance of PLPhas been demonstrated (3). Defects in this gene are responsiblefor Pelizaeus-Merzbacher disease (PMD, 1-4). The alterationin PLP is unique for each of the PMD families in which themolecular defect has been described. Linkage to PLP has beenshown in families in which no intra-exonic mutations were found(4, 5). Therefore, molecular screening of new cases will entailevaluation of the entire PLP locus; the method of carrier detectionand prenatal diagnosis would be dependent on the specificmutation found. The RFLP system described herein may behelpful in the evaluation of families exhibiting neurologicdisorders suggestive of PMD.Probe Availability: Dr. Lynn Hudson.Other Comments: It is not necessary to cut the genomic insertfrom the plasmid prior to use, nor is it necessary to prehybridizeblots with total human DNA to obtain clean autoradiographs. Thestringency wash is at 65°C for 30 minutes in 0.1XSSC and 0.1 %SDS. For adequate separation of bands on 0.8% agarose, aconstant band at 1.2-1.3 kb is usually run off the gel.Acknowledgement: Supported by grant CA16448 from the NIH.References: 1) Hudson,L.D. etal. (1989) Proc. Natl. Acad. Sci.USA 86, 8128-8131. 2) Raskind.W.H. et al. (1991) Am. J.Hum. Genet. 49, 1355-1360. 3) Willard.H.F. et al. (1987)Cytogenet. Cell Genet. 46, 716. 4) Trofatter.J.A. etal. (1989)Proc. Natl. Acad. Sci. USA 86, 9427-9430. 5) Pham-Dinh.D.et al. (1991) Proc. Natl. Acad. Sci. USA 88, 7562-7566.

An EcoRI polymorphism for the glutaminyl-tRNA synthetase (QARS) gene on chromosome 1q

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