Eur J Hum Genet. 2009 Nov 25.
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?, Nguyen K, Bernard R, Fernandez C, Vovan C, Bareil C, Van Kien PK, Thorel D, Tuffery-Giraud S, Vasseur F, Attarian S, Pouget J, Girardet A, Lévy N, Claustres M.
CHU de Montpellier, Laboratoire de Génétique Moléculaire, Montpellier, France.
Molecular pathophysiology of facioscapulohumeral muscular dystrophy (FSHD) involves the heterozygous contraction of the number of tandemly repeated D4Z4 units at chromosome 4q35.2. FSHD is associated with a range of 1-10 D4Z4 units instead of 11-150 in normal controls.
Several factors complicate FSHD molecular diagnosis, especially the cis-segregation of D4Z4 contraction with a 4qA allele, whereas D4Z4 shortening is silent both on alleles 4qB and 10q. Discrimination of pathogenic 4q-D4Z4 alleles from highly homologous 10q-D4Z4 arrays requires the use of the conventional Southern blot, which is not suitable at the single-cell level.
Preimplantation genetic diagnosis (PGD) is a frequent request from FSHD families with several affected relatives. We aimed to develop a rapid and sensitive PCR-based multiplex approach on single cells to perform an indirect familial segregation study of pathogenic alleles.
Among several available polymorphic markers at 4q35.2, the four most proximal (D4S2390, D4S1652, D4S2930 and D4S1523, <1.23>
Instead, a particular haplotype segregated with both clinical and molecular status, allowing the characterization of an at-risk allele in each tested FSHD family (maximal LOD score 2.98 for theta=0.0).
This indirect protocol can easily complement conventional techniques in prenatal diagnosis.
Although our multiplex PCR-based approach technically fulfils guidelines for single-cell analysis, the relatively high recombination risk hampers its application to PGD.
Supporting research into Facioscapulohumeral Muscular Dystrophy.
Thursday, November 26, 2009
New Posting - Research from Lab. de Genetique Moleculaire
Subscribe to: Post Comments (Atom)
Just wanted to say hello all. This is my first post.
I came to learn alot here.
I just want too take time too thank the active members for doing what you do and making the community what it is im a long time reader and first time poster so i just wanted to say thanks.
Just wanted to say hello to all here. This is my 1st message here.
It definitely seems the owners of this group sure are doing a miraculous job.
I look forward to find a lot of information here and help other people as much as I can.
Thank you, that was extremely valuable and interesting...I will be back again to read more on this topic.
Sweet site, I hadn't noticed blog.fshfriends.org earlier during my searches!
Continue the great work!
Have you considered the fact that this might work another way? I am wondering if anyone else has come across something
like this in the past? Let me know your thoughts...
This is a question for the webmaster/admin here at blog.fshfriends.org.
May I use some of the information from your post above if I give a link back to this website?
Post a Comment