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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 5 messages
From: Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>
Date: Wed, 24 Jan 1996 09:53:46 MET-DST

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 4 submessage(s):

1)   Mitochondrial DNA and male infertility

2)   Collaboration req. from Pakistan

3)   Neurofibromatosis type 1


  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics network
  Diagnostics/Clinical Research Section


We've just started a 3-year project surveying mitochondrial DNA
deletions/mutations in relation to human male infertility and I'm
interested in  making contact with anyone else in this field.

Further information on our thinking behind this project can be foundin our
review:  Cummins JM, Jequier AM, Kan R. Molecular biology of human male
infertility - links with aging, mitochondrial genetics, and oxidative
stress? Mol Reprod Devel 1994;37(3):345-362.

Jim o~o~o~ Cummins - Associate Professor in Veterinary Anatomy
Murdoch University, Western Australia 6150
Tel +61-9-360 2668, Fax +61-9-310 4144
URL http://Numbat.murdoch.edu.au/vetbiol/images/cummins.htm

Please could the following call for collaboration be placed on the
bulletin board.

I have had a request for assistance in finding possible collaborators to
help two medical geneticists in Pakistan. They have identified several
families with the following disorders:

1) Dwarfism with multiple bone abnormalities (autosomal dominant)
2) Multiple exocytosis (autosomal recessive) two families
3) Mental retardation (X linked). More than 50 members affected and
living in one village.
4) A new type of anodantia (autosomal recessive)
5) Nail abnormalities
6) Alopecia (autosomal recessive)

        There are more than 15 affecteds in each family.

For further information contact Dr Nigel K Spurr at spurr@icrf.icnet.uk

We are researching on the molecular genetics of Neurofibromatosis
type 1 ( NF1 ). We require either DNA or a blood sample from a new
mutation case and their unaffected parents. Please contact
Meena Upadhyaya
Institute of medical genetics
Heath Park
Cardiff CF4 4XN
FAX 01222 747603
Phone 01222 744084


     A debate has been ongoing among HMG editors on how to
process requests for specimens (blood, DNA, cells.....)
from patients/donors, posted on HMG. This problem stems from the
global and innovative nature of HMG.   While the debate is
continuing, this editor thinks it is necessary to observe a
minimal standard regarding the issues of study approval and
protection against identification (of a certain individual
through the specimen obtained).
     Therefore this editor assumes that any request for human
specimens, 1) originates from studies with at least an IRB
approval, 2) the samples will be effectively protected
against identification of the patient/donor, and 3) the IRB
approval contemplates the possibility of soliciting and obtaining
samples from institutions other that the home institution and
from other countries. Alternatively, the message should state
that samples can be sent only from a restricted number of
countries. Regarding the human specimens being sent/received, HMG
implies that: "Appropriate consent was obtained, for use of this
material, and it should be understood that information about this
sample will be stored in a database without identification of the
individual from whom they were derived." (This sentence was
supplied by Jeanne C. Beck, NIGMS Human Genetic Mutant Cell
Repository, in conjunction with NIH).
     It is the responsibility of the individual sending the
request, to verify that the above mentioned requirements are met;
the mailing of the request to HMG implies full acceptance of these

  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics Network
  Diagnostics/Clinical Research Section


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