✦ LIBER ✦

The gene causing familial hypoalphalipoproteinemia is not caused by a defect in the apo AI-CIII-AIV gene cluster in a Spanish family

✍ Scribed by John J. P. Kastelein; Jonathan L. Haines; Michael R. Hayden

Publisher: Springer
Year: 1990
Tongue: English
Weight: 517 KB
Volume: 84
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00195807

No coin nor oath required. For personal study only.

✦ Synopsis

High-density lipoprotein (HDL) cholesterol levels have an inverse relationship with the frequency of coronary and cerebrovascular disease. Most commonly HDL deficiency is environmentally modulated. Familial hypoalphalipoproteinemia (FHA) is a genetically determined HDL deficiency disease, in all likelihood transmitted as an autosomal dominant trait and associated with premature atherosclerosis. Apolipoprotein AI (apo AI) is the major apoprotein in the HDL particle, and defects in this protein have been suggested as the cause of FHA. We have identified a large family of Spanish descent with FHA and performed genetic linkage analysis using restriction fragment length polymorphisms in the Apo AI-CIII-AIV gene cluster to test this hypothesis. Results in this family formally exclude the apo AI-CIII-AIV gene cluster as the site for the mutation underlying FHA.

📜 SIMILAR VOLUMES

hKCNN3which maps to chromosome 1q21 is n

hKCNN3which maps to chromosome 1q21 is not the causative gene in periodic catatonia, a familial subtype of schizophrenia

✍ Gerald Stöber; Jobst Meyer; Indrajit Nanda; Thomas F. Wienker; Kathrin Saar; Sus 📂 Article 📅 2000 🏛 Springer-Verlag 🌐 English ⚖ 306 KB

A heterozygous novel C253Y mutation in t

A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family?

✍ Carlos Reig; María Martinez-Gimeno; Miguel Carballo 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

Prenatal diagnosis by FISH in a family w

Prenatal diagnosis by FISH in a family with Pelizaeus–Merzbacher disease caused by duplication of the PLP gene

✍ Karen Woodward; Rodger Palmer; Kathleen Rao; Sue Malcolm 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 2 views

A diagnosis of Pelizaeus-Merzbacher disease (MIM 312080) was made in a young boy. No mutation in the coding region of the proteolipid protein (PLP) gene had been found. The boy's maternal aunt came for prenatal diagnosis when 16+ weeks pregnant and carrying a male fetus. Samples were tested for dupl

Loss of the SEDL gene product (Sedlin) c

Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family

✍ Matsui, Yoshito ;Yasui, Natsuo ;Ozono, Keiichi ;Yamagata, Masayo ;Kawabata, Hide 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 107 KB 👁 2 views

Pelizaeus-Merzbacher disease in a family

Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene

✍ Pratt, Victoria M. ;Boyadjiev, Simon ;Dlouhy, Stephen R. ;Silver, Kenneth ;Kalou 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 306 KB 👁 2 views

Different ocular abnormalities in indivi

Different ocular abnormalities in individuals of a three-generation family caused by a new nonsense mutation in the PST domain of the PAX6 gene

✍ Yana Syagailo; Klaus Wilke; Olga Okladnova; Antonin Eigel; Marta Lemmens; Vladim 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB 👁 2 views

PAX6 is a candidate gene for familial aniridia. We have carried out a mutational analysis of the PAX6 gene in a three-generation family from Germany, containing 5 individuals affected with ocular abnormalities. In all affected individuals, a heterozygous mutation was detected in the PAX6 gene, excha