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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: CALL:
From: Arthur Bergen <bergen@AMC.UVA.NL>
Date: Wed, 24 May 1995 11:27:45 +0100

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


   
 
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