Since DMD has an X-linked recessive inheritance mode, a man cannot pass DMD gene to his sons. The mother is the carrier of the defective X-chromosome and passes it to 50% of her sons. So even if the father has the less severe Becker's muscular dystrophy, he could not have passed it to his son as it is also an X-linked recessive condition.
Regards
Mohammad
Dr. M A Al-Jubouri, MB ChB, MSc, EurClinChem, FRCP Edin, FRCPath
Consultant Chemical Pathologist
--------------------------------------------
On Tue, 1/9/15, OConnor John (ROYAL DEVON AND EXETER NHS FOUNDATION TRUST) <[log in to unmask]> wrote:
Subject: FW: Dystrophin measurement
To: [log in to unmask]
Date: Tuesday, 1 September, 2015, 8:56
Dear Collective
I was asked the question below by one
of our paediatricians
Anyone have any idea ??
BW John
Dear John
The father of a lad newly
diagnosed with Duchenne Muscular Dystrophy (BD69494) asked
me the smart question as to whether we could measure whether
he makes and Dystrophin, and if so how much.
He seems to have a mild
variant (hopefully) so this could have clinical relevance as
to whether we started steroid therapy.
From my quick search this
seems to be an area
of research. Are you aware of any labs offering
this measurement (and guidance on how we would interpret
it?)
Many thanks
Richard
********************************************************************************************************************
This message may contain confidential information. If you
are not the intended recipient please inform the
sender that you have received the message in error before
deleting it.
Please do not disclose, copy or distribute information in
this e-mail or take any action in reliance on its contents:
to do so is strictly prohibited and may be unlawful.
Thank you for your co-operation.
NHSmail is the secure email and directory service available
for all NHS staff in England and Scotland
NHSmail is approved for exchanging patient data and other
sensitive information with NHSmail and GSi recipients
NHSmail provides an email address for your career in the NHS
and can be accessed anywhere
********************************************************************************************************************
------ACB discussion List Information--------
This is an open discussion list for the academic and
clinical community working in clinical biochemistry.
Please note, archived messages are public and can be viewed
via the internet. Views expressed are those of the
individual and they are responsible for all message content.
ACB Web Site
http://www.acb.org.uk
Green Laboratories Work
http://www.laboratorymedicine.nhs.uk
List Archives
http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html
List Instructions (How to leave etc.)
http://www.jiscmail.ac.uk/
------ACB discussion List Information--------
This is an open discussion list for the academic and clinical community working in clinical biochemistry.
Please note, archived messages are public and can be viewed via the internet. Views expressed are those of the individual and they are responsible for all message content.
ACB Web Site
http://www.acb.org.uk
Green Laboratories Work
http://www.laboratorymedicine.nhs.uk
List Archives
http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html
List Instructions (How to leave etc.)
http://www.jiscmail.ac.uk/
|