𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis

✍ Scribed by B. A. Oost; P. M. Zandvoort; W. Tünte; H. G. Brunner; A. J. M. Hoogeboom; P. D. Maaswinkel-Mooy; J. Bakkeren; B. Hamel; H. H. Ropers

Publisher
Springer
Year
1991
Tongue
English
Weight
431 KB
Volume
86
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis

We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be extended giving a maximal LOD score of 22.5 at 1 cM. F8C was also tightly linked to ALD with a maximal LOD score of 7.8 without recombination. Multipoint linkage analysis with the markers DXS304, DXS52, and F8C indicated that both the gene for ALD and for F8C are distal to DXS52. In four patients with ALD, no major structural rearrangement in the Xqter region was observed; in particular, there were no abnormalities in the vision blindness genes. DNA analysis appeared to be of use in determination of the carrier status of females at risk, for the determination of the origin of the mutation in a particular family, and for prenatal diagnosis.

📜 SIMILAR VOLUMES

ALDP expression in fetal cells and its a
ALDP expression in fetal cells and its application in prenatal diagnosis of X-linked adrenoleukodystrophy
✍ M. Ruiz; M. J. Coll; T. Pampols; M. Girós 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB 👁 2 views

X-linked adrenoleukodystrophy (X-ALD) is due to an impairment in the peroxisomal -oxidation of very long straight chain fatty acids (VLCFAs) and the gene involved encodes a 75 kD protein (ALDP). Prenatal diagnosis is usually made by measurement of VLCFAs in cultured amniotic fluid cells (CAF) and ch

Prenatal diagnosis of X-linked adrenoleu
Prenatal diagnosis of X-linked adrenoleukodystrophy combining biochemical, immunocytochemical and DNA analyses
✍ Esther M. Maier; Adelbert A. Roscher; Stefan Kammerer; Karl Mehnert; Ernst Conze 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB 👁 2 views

Amniocentesis was performed at 17 weeks' gestation on a 39-year-old woman at risk of being a carrier for X-linked adrenoleukodystrophy (X-ALD). Her first son had been affected with childhood cerebral X-ALD and had died at the age of nine years. DNA analysis had not been performed nor was any materia

ABCD1 mutations and the X-linked adrenol
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
✍ Stephan Kemp; Aurora Pujol; Hans R. Waterham; Björn M. van Geel; Corinne D. Boeh 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 384 KB

## Communicated by Jan Kraus X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, which encodes a peroxisomal ABC half-transporter (ALDP) involved in the import of very long-chain fatty acids (VLCFA) into the peroxisome. The disease is characterized by a striking and unp