Preimplantation genetic haplotyping
- Preimplantation genetic haplotyping
Preimplantation Genetic Haplotyping (PGH) is a clinical method of preimplantation genetic diagnosis (PGD). PGH was first developed in 2006 at London's Guy's Hospital and greatly advances PGD by using DNA fingerprinting rather than identifying the actual genetic signature (such as point mutations).[cite journal]
author = Renwick PJ, Trussler J, Ostad-Saffari E, et. al
date = 2006-07-13
title = Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosis
journal = Reprod Biomed Online
volume = 13
issue = 1
pages = 110–9
doi =
pmid = 16820122
url = http://www.ingentaconnect.com/content/repro/rebi/2006/00000013/00000001/art00017
format = subscription required ] Scope
Compared with previous PGD techniques, PGH allows:
* The ability to screen male embryos
**hence male embryos can be screened for X-linked disorders such as Duchenne muscular dystrophy and Becker's muscular dystrophy
**hence having both male and female embryos screened, an increase the number of embryos that can be implanted
* A much greater number of individual tests
* Increased reliability
* Higher success rate
Uses
PGH has been used to screen for:
* cystic fibrosis
* Duchenne muscular dystrophy
* Huntington's disease
* Spinal Muscular Atrophy
* Alport's syndrome
* Von Hippel-Lindau disease
* Sickle-cell disease
* and recurrent Hydatidiform mole References
External links
cite web
url = http://www.guysandstthomas.nhs.uk/news/newsarchive/newsarticles/pgd.aspx
title = Revolutionary new technology will allow more couples to benefit from preimplantation genetic diagnosis
accessdate = 2006-09-26
date = 2006-09-12
work = PGH Press Release
publisher = 2006 Guy's and St Thomas' NHS Foundation Trust
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