✦ LIBER ✦

Linkage analysis in dominantly inherited osteogenesis imperfecta

✍ Scribed by Sykes, Bryan

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 498 KB
Volume: 45
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320450212

No coin nor oath required. For personal study only.

✦ Synopsis

The only serious attempts at linkage in osteogenesis imperfecta (01) have shown that the disease is linked to type 1 collagen genes in all families studied in which it segregrates as a clear mendelian dominant trait. For prenatal diagnosis the probability that a new family is linked can be taken as greater than 0.95 and this figure is augmented as more meioses are studied. Some phenotype correlations, notably between the 0 1 type IV phenotype and linkage to COLlA2 and between presenile hearing loss in 0 1 type I and linkage to COLlAl, can be used to improve risk estimates substantially in families where there are no segregation data to distinguish whether COLlAl or COLlA2 is the mutant 10CUS.

📜 SIMILAR VOLUMES

Collagen fibrils of osteoid in osteogene

Collagen fibrils of osteoid in osteogenesis imperfecta: Morphometrical analysis of the fibril diameter

✍ Stöss, H. ;Freisinger, P. 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 111 KB 👁 2 views

Morphological and functional aspects of

Morphological and functional aspects of genetic analysis of osteogenesis imperfecta in cultured dermal fibroblasts

✍ E. M. Meerson; F. S. Barer; A. P. Berezhnyi; E. V. Prokhorova; T. P. Malyavko; É 📂 Article 📅 1992 🏛 Springer US 🌐 English ⚖ 471 KB

Haplotype analysis of collagen type I ge

Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families

✍ Mottes, Monica ;Sangalli, Antonella ;Pignatti, Pier Franco 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 707 KB

Cephalometric analysis of families with

Cephalometric analysis of families with dominantly inherited Crouzon syndrome: An aid to diagnosis in family studies

✍ Murdoch-Kinch, Carol Anne; Bixler, David; Ward, Richard E. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB 👁 2 views

Crouzon syndrome (CS) is an autosomal dominant condition comprising orbital proptosis, midfacial hypoplasia, premature sutural synostosis, and altered proportions of bone lengths in the hands. In families the CS trait is highly variable. Several cases of affected sibs born to unaffected parents have

Inheritance and linkage analysis of phos

Inheritance and linkage analysis of phosphoglucose isomerase isozymes in soybeans

✍ Y. C. Chiang; M. B. Gorman; Y. T. Kiang 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 322 KB

Mutation analysis of COL1A1 and COL1A2 i

Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV

✍ Rebecca Pollitt; Robert McMahon; Janice Nunn; Robert Bamford; Amal Afifi; Nichol 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 149 KB

Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. To date, seven types of OI have been described, based on clinical phenotype and histological findings. Most patients with a clin