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).^[1]

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^[1]
• Duchenne muscular dystrophy
• Huntington's disease
• Spinal Muscular Atrophy
• Alport's syndrome
• Von Hippel-Lindau disease
• Sickle-cell disease
• and recurrent Hydatidiform mole

References

1. ^ ^{a b} Renwick PJ, Trussler J, Ostad-Saffari E et al. (2006-07-13). "Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosis" (subscription required). Reprod Biomed Online 13 (1): 110–9. doi:10.1016/S1472-6483(10)62024-X. PMID 16820122. http://www.ingentaconnect.com/content/repro/rebi/2006/00000013/00000001/art00017. 

External links

"Revolutionary new technology will allow more couples to benefit from preimplantation genetic diagnosis". PGH Press Release. 2006 Guy's and St Thomas' NHS Foundation Trust. 2006-09-12. Archived from the original on 2006-09-30. http://web.archive.org/web/20060930051138/http://www.guysandstthomas.nhs.uk/news/newsarchive/newsarticles/pgd.aspx. Retrieved 2006-09-26.