HUM-MOLGEN archive: CALL:

Note from the editor: This CALL contains seven submessages: 1) CALL: vit D receptor polymorphism 2) CALL: adress of Dr. Varadi, Hungary wanted 3) CALL: looking for a clinical geneticist in Poland 4) CALL, DIAG: risk estimate of balanced 1,5 translocation 5) CALL, DIAG: autosomal dominant coloboma and already two replies on these messages! 6) CALL: REPLY to vit D receptor polymorphism 7) CALL, DIAGNOS: REPLY to autosomal dominant coloboma The CALL section is open for FREE calls for collaboration, offers of assistance, help or materials wanted, etc. With a single E-mail you can reach approximately thousand colleagues worldwide. Please reply to CALLS with person-to person E-mail (preferably not via HUM-MOLGEN, unless your reply is of general interest). Good CALLs ! Arthur Bergen (owner HUM-MOLGEN) Bergen@amc.uva.nl ***************************************************************************** This message was originally submitted by mcbtayhn@LEONIS.NUS.SG to the HUM-MOLGEN list at NIC.SURFNET.NL. Hi Is there anyone out there working on vit D receptor polymorphism, and does anyone know where I can find details of the exon-intron organisation of the vit D receptor? The literature I have does not lists primers for the Bsm I polymorphism but has no other details. I'm contemplating a survey of VDR genotypes in the local popn (Singapore). Thanks Agnes ************************************************************************* This message was originally submitted by leslieb@HELIX.NIH.GOV to the HUM-MOLGEN list at NIC.SURFNET.NL. Does anyone know the current address of Dr. A. Varadi of Debrecen Hungary? I tried to contact him via an address from a publication but the letter was returned. Leslie Biesecker NIH/NCHGR Bldg 49 Room 4A80 Bethesda, MD 20892 Phone 301-402-2041 Fax 301-402-2170 Email leslieb@helix.nih.gov ************************************************************************ Subj: Bialostock, Poland This message was originally submitted by leslieb@HELIX.NIH.GOV to the HUM-MOLGEN list at NIC.SURFNET.NL. Does anyone out there know of a clinical geneticist in the vicinity of Bialostock Poland? I am evaluating a family here in the US who are descendants of inhabitants of that city and would like to make contact with a geneticist in that area. Leslie Biesecker NIH/NCHGR Bldg 49 Room 4A80 Bethesda, MD 20892 Phone 301-402-2041 Fax 301-402-2170 Email leslieb@helix.nih.gov ************************************************************************* This message was originally submitted by rowedw@CTRVAX.VANDERBILT.EDU to the HUM-MOLGEN list at NIC.SURFNET.NL. I have a pregnant family member with a fetal karyotype which exhibits a "balanced 1,5 translocation" by light microscopy. One of the parents also exhibits this karyotype and is phenotypically normal. There is no family history of retardation or genetic disease, although there is a history of spontaneous miscarriages. There appears to be a standard reccomendation in the literature that familial(not de novo) apparently balanced translocation confers no greater risk than the background IF the parent is phenotypically normal and a translocation carrier. However a few older papers by Fryns et al from 1986 and 1988 seem to dispute this. Steinbach(1986) accuses the Fryns paper of ascertainment bias. Specifically, is the risk of abnormality reduced to the so called background risk in light of the phenotypically normal parent? Also, is there the possibility of a more detailed submicroscopic point by point comparison of the parental chromosomes with the fetal chromosomes to increase the likelihood of a normal child. Thank you in advance for reading this message, and for any help you might provide, time is of the essence. *********************************************************************** Subj: DIAG, CALL : autosomal dominant coloboma This message was originally submitted by U13430@UICVM to the HUM-MOLGEN list at NIC.SURFNET.NL. I'm attempting to find out if there are any labs that are looking at familial coloboma. We recently evaluated a child with bilateral iris, choroid and retina coloboma. A dysmorphology exam was unremarkable for any signs of an underlying syndrome and the child is devloping normally. The proband's father has undergone numerous ophthalmologic assessments without any evidence of coloboma. His brother, his father, and three paternal aunts are affected. This family would be interested in participating in any molecular research looking at candidate genes for coloboma. I would be delighted to hear from any researchers that would be interested in studying this family. Anna Newlin, MS Genetic Counselor University of Illinois at Chicago Eye and Ear Infirmary annanewl@uic.edu ************************************************************************ Subj: CALL: Answer to Vit D Receptor query Re: The following enquiry: >Is there anyone out there working on vit D receptor polymorphism, and does >anyone know where I can find details of the exon-intron organisation of the >vit D receptor? The literature I have does not lists primers for the Bsm I >polymorphism but has no other details. I'm contemplating a survey of VDR >genotypes in the local popn (Singapore). >Thanks >Agnes A quick search of GDB revealed the information that follows. Hope it helps. Cheers, Martin NNNN NN Martin A Kennedy (E-mail = mkennedy@chmeds.ac.nz) ZZZZZZZ NN NN NN Cytogenetic and Molecular Oncology Unit ZZZ NN NN NN Christchurch School of Medicine ZZZ NN NNNN Christchurch, New Zealand ZZZZZZZ Phone (64-3)364-0880 Fax (64-3)364-0750 - GDB Locus Detail - GDB ID: G00-120-487 Symbol: VDR Type: Gene Aliases: Locus Name: vitamin D (1,25-dihydroxyvitamin D3) receptor Cyto Location: 12q12-q14 Ref. Marker: No Assign. Modes: Annealing of Homologous DNA-DNA or DNA-RNA Sequences; Cytogenetic Rearrangement Contributing Directly to Phenotype; Analysis Based on DNA Digested with One or More Restriction Endonucleases; Somatic Cell Hybrids MIM: 277440 EC: EST: PIR: DNAseq: J03258,M65208 Annotation: Created: Jun 30 1989 Last Modified: Jun 1 1993 Associated Polymorphisms Allele Max Locus Set Type Probe/Enzyme Het GDB ID ------------------------------------------------------------------------------- VDR Aa UNKN pH13,hVDR / ApaI 0.63 G00-058-326 VDR Ba RS hVDR / BsmI 0.55 G00-063-804 VDR Ca UNKN hVDR / EcoRV 0.63 G00-063-805 VDR Da UNKN hVDR / TaqI 0.48 G00-063-806 Associated Citations Primary Author Citation Year GDB ID ------------------------------------------------------------------------------- Hustmyer, FG Hum Mol Genet 2:487 1993 G00-043-701 Labuda, M J Bone Miner Res 7:1447-53 ** 1992 G00-205-350 Labuda, M Cytogenet Cell Genet 58:1978 1991 G00-027-150 Szpirer, J Genomics 11:168-73 ** 1991 G00-029-616 Zhang, SZ Clin Genet 37:153-7 1990 G00-017-445 Faraco, JH Nucleic Acids Res 17:2150 . 1989 G00-011-448 McDonnell, DP Mol Endocrinol 3:635-44 1989 G00-023-784 Ritchie, HH Proc Natl Acad Sci U S A 86:9783-7 1989 G00-014-647 Baker, AR Proc Natl Acad Sci U S A 85:3294-8 1988 G00-023-782 Hughes, MR Science 242:1702-5 1988 G00-011-117 Associated Probes Probe Name Type DNA Type Locus GDB ID ------------------------------------------------------------------------------- pH13 Cloned cDNA VDR(+) G00-171-029 Oligo2a/Oligo2b PCR Unknown VDR G00-177-370 Oligo3a/Oligo3b PCR Unknown VDR G00-177-549 VDR.ASO1.1/VDR.AS+ ASO Unknown VDR G00-177-741 VDR.ASO2.1/VDR.AS+ ASO Unknown VDR G00-177-742 hVDR Cloned cDNA VDR(+) G00-197-064 RK793/RK794 PCR Unknown VDR G00-384-887 ***************************************************************************** Subj: RE: DIAG, CALL : autosomal dominant coloboma Re the request: >I'm attempting to find out if there are any labs that are looking at familial >coloboma. We recently evaluated a child with bilateral iris, choroid and retina ....stuff deleted............... > This family would be interested in participating in any molecular research >looking at candidate genes for coloboma. I would be delighted to hear from >any researchers that would be interested in studying this family. > > Anna Newlin, MS > Genetic Counselor > University of Illinois at Chicago > Eye and Ear Infirmary > annanewl@uic.edu Mike Eccles, at the University of Otago (New Zealand) has found Pax-2 mutations in familial optic nerve coloboma. Reference - Sanyanusin P, Schimmenti LA, Mcnoe LA, Ward TA, Pierpont MEM, Sullivan MJ, Dobyns WB, and Eccles MR (1995). Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 9: 358-364. He would, I am sure, be delighted to hear from you at: meccles@gandalf.otago.ac.nz And I've passed your address on to him. Cheers, Martin NNNN NN Martin A Kennedy (E-mail = mkennedy@chmeds.ac.nz) ZZZZZZZ NN NN NN Cytogenetic and Molecular Oncology Unit ZZZ NN NN NN Christchurch School of Medicine ZZZ NN NNNN Christchurch, New Zealand ZZZZZZZ Phone (64-3)364-0880 Fax (64-3)364-0750