✦ LIBER ✦

Clinical application of preimplantation genetic diagnosis for cystic fibrosis

✍ Scribed by V. Goossens; K. Sermon; W. Lissens; M. Vandervorst; A. Vanderfaeillie; M. De Rijcke; A. De Vos; P. Henderix; H. Van de Velde; A. Van Steirteghem; I. Liebaers

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 114 KB
Volume: 20
Category: Article
ISSN: 0197-3851
DOI: 10.1002/1097-0223(200007)20:7<571::aid-pd879>3.0.co;2-n

No coin nor oath required. For personal study only.

✦ Synopsis

Cystic fibrosis (CF) is an autosomal recessive disease characterized by obstruction and chronic infections of the respiratory tract and pancreatic insufficiency. The gene was cloned in 1989 and the most frequent mutation was shown to be the delta F508 mutation. During PGD, embryos obtained in vitro are checked for the presence or absence of the mutation, after which only embryos shown to be free of the mutation are returned to the mother. Up to 1999, 48 intracytoplasmic sperm injection (ICSI) and in vitro fertilization (IVF) cycles had been carried out for PGD for CF in 24 couples, and different diagnostic tests had been used to select non-affected embryos. Thirteen patients became pregnant and 12 healthy babies have been born.

📜 SIMILAR VOLUMES

Clinical evaluation of preimplantation g

Clinical evaluation of preimplantation genetic diagnosis

✍ Alan H. Handyside 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 108 KB 👁 1 views

Clinical application of preimplantation

Clinical application of preimplantation diagnosis for myotonic dystrophy

✍ K. Sermon; W. Lissens; H. Joris; S. Seneca; S. Desmyttere; P. Devroey; A. Van St 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 100 KB 👁 1 views

Myotonic dystrophy (DM) or Steinert's disease is a progressive autosomal dominant disease characterized by increasing muscle weakness, myotonia, cataracts, and endocrine abnormalities such as diabetes and testicular atrophy. The gene for DM was cloned in 1992 and the mutation was shown to be an expa

Improvement of preimplantation genetic d

Improvement of preimplantation genetic diagnosis (PGD) for the cystic fibrosis mutation Δ F508 by fluorescent polymerase chain reaction

✍ Céline Moutou; Stéphane Viville 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 64 KB 👁 2 views

Cost-effective one-step PCR amplificatio

Cost-effective one-step PCR amplification of cystic fibrosis Δ F508 fragment in a single cell for preimplantation genetic diagnosis

✍ Yu Hui Tsai 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 140 KB 👁 1 views

The combination of in vitro fertilization (IVF) with PCR technologies enables diagnosis of single gene defects for preimplantation genetic diagnosis. This has been accomplished by two-step nested PCR, or PEP-PCR followed by nested PCR processes. To improve the detection of single cell genetic defect

Application of single-needle blastomere

Application of single-needle blastomere biopsy in human preimplantation genetic diagnosis

✍ J. Inzunza; E. Iwarsson; M. Fridström; B. Rosenlund; P. Sjöblom; T. Hillensjö; E 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB 👁 1 views

We have tested and subsequently successfully applied a single-needle approach to obtain blastomere biopsies from human preimplantation embryos for preimplantation genetic diagnosis (PGD). The method was first evaluated in a mouse system and shown to be compatible with a high degree of in vitro and i

Assessment of the reliability of single

Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the ΔF508 deletion causing cystic fibrosis in clinical practice

✍ Pierre F. Ray; Asangla Ao; Deborah M. Taylor; Robert M. L. Winston; Alan H. Hand 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 197 KB 👁 2 views

Following the birth of a baby girl confirmed to be homozygous normal for the delta F508 deletion causing cystic fibrosis (CF), many single-gene defects have been diagnosed by polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD). A few misdiagnoses have been reported but no lar