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Nuefeic Adds Research, Vol. 19, No.3<br />

A new polymorphic probe on<br />

chromosome 22: NB17 (0228181)<br />

RH.lekanne Deprez', N.A.van Blazen, P,Heutinkl,<br />

K.R.G.S.8oejharat, A.da Kleln2, A.H.M.Geurts van<br />

Kesse!3 and E.C.Zwarthoff<br />

Departments 01 Pathology, lCiinical Genetics and 2CeH<br />

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

JOepartment of Human Genetics, University 01 Nljmegen,<br />

The Netherlands<br />

A new polymorphic probe on<br />

chromosome 22: NB35 (0228182)<br />

A.H.Lekanne Deprez·, NAvan Blezen, P.Heutinkl,<br />

KA,G,S,Boejharal, Ada Kiein 2 , AH,M,Geurts van<br />

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

Departments of Pathology, 1Clinical Genetics and 2eell<br />

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

3Department of Human Genetics, University of N~megen,<br />

The Netherlands<br />

SoufcelDescriplion: NBI7 is a 0.7 kb Hindl11-&oRI fragment<br />

isolated from two !XXlled chromosome 22 specific libraries (AT·<br />

CC # 57733 and ATCC # 57714) and was subcloned intopUC9.<br />

Po/)morphism: Bgill or TaqI digestion of genomic DNA and<br />

hybridization with the probe detects a two allele polymorphism: "<br />

BglD (AI: 12,5 kb, A2: 4.0 kb) with a constant band at 3.0 kb;<br />

Taqi (Bl: 2.9 kb, B2: 2,2 kb). The poJymorphisms detected with<br />

these two enzymes are almost in complete linkage disequilibrium.<br />

Frequency: Estimated from 92 (DglIl) and 95 (Taqn unrelated<br />

Caucasians.<br />

AI: 0.69<br />

A2: 0.31<br />

BI: 0.65<br />

82: 035<br />

NOI Polymorphic For: 8gll, DmI, Mspl and Pstl.<br />

ChromosomnllLxalit111ion: Regionallocalitation was established<br />

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

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

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

translocation at 22qll; A3EW2+3B, containing the t(ll ;22) from<br />

Ewing's sarwma (at 22q12) and 1/22 AM27 containing a 1(1;22)<br />

at 22ql3 (1, 2). The probe was assigned to chromosome 22<br />

between 22pter and 22qll.<br />

Mendelian Inheritance: Mendelian inheritance has been<br />

demonstrated in e .... lended pedigrees of Gilles de la rourette<br />

syndrome families (n = 380),<br />

Probe Availability: Available for collaboration.<br />

References: I) Goyns,M.H., Young,B.D., Geurts van Kessel,A"<br />

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

Leukemia Res. 8, 547~553, 2) Geurts van Kessel,A., Turccarel,C,<br />

, de Klein,A., GrosveJd,G., Lenoir,G. and Bootsma,D.<br />

(1985) Mol. Cell BioI,S, 427-429.<br />

Source/Description: NB35 is a 0.8 kb Hindm·&oRI fragment<br />

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

CC /I 57733 and ATCC /I 57714) and was subdoned into pUC9.<br />

Polymorphism: Bglll digestion of genomic DNA and<br />

hybridization with the probe detects a two allele polymorphism:<br />

8,7 kb (AI) and 8,0 kb (A2), No constant bands were present.<br />

Frequency: Estimated from 96 unrelated Caucasians,<br />

AI: 0,76 A2: 0,24,<br />

11'01 PO(I7/lorphic For: BgU, Oral. Mspl. Pstl and Taql.<br />

ChromoJOlllal Loca/i

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