21.11.2013 Views

View PDF Version - RePub - Erasmus Universiteit Rotterdam

View PDF Version - RePub - Erasmus Universiteit Rotterdam

View PDF Version - RePub - Erasmus Universiteit Rotterdam

SHOW MORE
SHOW LESS

You also want an ePaper? Increase the reach of your titles

YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.

Nudeic Acids Research, Vol. 19, No.3<br />

A new polymorphic probe on<br />

chromosome 22: NB84 (0228183)<br />

A.H.Lekanne Deprez', NAvan Biezen, P.Heutlnk 1 ,<br />

K.R.G.S.8oejharat, Ada Klein 2 , A.H.M.Geurts van<br />

Kessel 3 and E,C.Zwarthoff<br />

Departments of Pathology, lClinicaJ Genetics and 2Cell<br />

Biology and Genetics. <strong>Erasmus</strong> University and<br />

JOepartment 01 Human Genetics, University of Nijmegen.<br />

The Netherlands<br />

A new polymorphic probe on<br />

chromosome 22q: NB129<br />

(0228193)<br />

R.H.Lekanne Deprez', N.A.van Biezen, P.Heutinkl,<br />

K.R.G.S.Boejharal, A.de Klein 2 , AH.M.Geurts van<br />

Kessel 3 and E.C.Zwarthoff<br />

Departments of Pathology, !Clinical Genetics and "Celt<br />

Biology and Genetics, <strong>Erasmus</strong> University and<br />

3Department of Human Genetics. University of Nijmegen,<br />

The Netherlands<br />

Source/Description: NB84 is a 1.0 kb HindJlI·EcoRI fragment<br />

isolated from Iwo pooled chromosome 22 specific libraries (AT­<br />

CC 1/ 57733 and ATCC 1/ 57714) and is subdoned into pUC9.<br />

Polmwrphism: Pstl digestion of genomic DNA and hybridization<br />

with the probe detects a two allele polymorphism: 4.6 kb (AI)<br />

and 4.0 kb (Al). No constant bands were present.<br />

Frequency: E5tirnated from 91 unrelated Caucasians.<br />

AI: 0.19 A2: 0.81.<br />

NOI PO(\'Inorphic For. Bgll, Bglll, DraI, Mspl and Taql.<br />

Chmmosomalwcaliza!ion: Regionallocalizalion was established<br />

by hybridization to a panel of somatic cell hybrids: PgMe-25Nu,<br />

containing only human chromosome 22; PgMo-22 and<br />

IC8-17ANu, respectively containing both products of the<br />

Philadelphia translocation at 22ql 1; A3EW2-]8, containing the<br />

t(lI:22) from Ewing's sarcoma (at 22q12) and 1122 AM27<br />

containing a t((;22) at 22ql3 (I, 2). The probe was assigned to<br />

chromosome 22 between 22pter and 22ql L<br />

Mendelian Inheritance: Mendelian inheritance has been<br />

demonstrated in extended pedigrees of Gilles de la TOllrette<br />

syndrome families (n = ]80).<br />

Probe Ami/abiliTY: Available for collaboration.<br />

References: I) Goyns.M.H., YOllflg,8.D., Geurts van Kessel,A.,<br />

de Klein,A., Gros~'eld,G., Bartram,C.R. and Bootsma,D. (1984)<br />

Leukemia Res. 8, 547-553. 2) Geurts van Kessel,A., Turc­<br />

Carel,C., de Klein.A .. Grosveld,G .. lenoir,G. and Bootsma,D.<br />

(1985) Mol. Cdl Bioi. S, 427-429.<br />

SourcelDescn'prion: NDI29 is a 0.6 kb HindllI-EcoRl fragment<br />

isolated from twO pooled chromosome 22 specific libraries (AT­<br />

CC # 5773] and ATCC # 57714) and is subdoned into pUC9.<br />

Polymorphism: Pst! digestion of genomic DNA and hybridization<br />

with the probe detects a two allele polymorphism: 1.6 kb (AI)<br />

and 1.3 kb (Al). No constant bands were present.<br />

Frequcncy: Estimated from 98 unrelated Caucasians<br />

AI: 0.45 Al: 0.55.<br />

Not Polymorphic For: Bgll, BglII, DraI, MspI and TaqI.<br />

Olromosonlalwcaliza.tion: Regionallocaliz.ation was established<br />

by hybridization to a panel of somatic cell hybrids: pgMe-25Nu,<br />

containing only human chromosome 22; PgMo-22 and<br />

ICB-17ANu, respectively containing both products of the<br />

Philadelphia translocation at 22qI I; A3EW2 - ]B, containing the<br />

t(lI;22) from Ewing's sarcoma (at 22q12) and 1122 AM27<br />

containing a t(I;22) at 22qI3 (I, 2). The probe was assigned to<br />

the long arm of chromosome 22 between 22qll and 22q12.<br />

Mendelian Inhcritance: Mendelian inheritance has been<br />

demonstrated in extended pedigrees of Gilles ,de la Tourette<br />

syndrome families (n =:0 380).<br />

Probe Amilability: Available for collaboration.<br />

References: 1) aoyns,M.H., Young,B.D., Geurts van Kessel,A.,<br />

de K1ein,A., Grosveld,G., Bartram,C.R. and Bootsma,D. (1984)<br />

Leukemia Res. 8, 547-55]. 2) Geurts van Kessel,A., Turc­<br />

Carel,C., de Klein,A., Grosveld,G" Lenoir,G. and Bootsma,D.<br />

(1985) Mol. Cell Bioi. 5, 427-429.<br />

62

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!