Literature DB >> 1972760

Segregation analysis of dominant osteogenesis imperfecta in Italy.

M Mottes1, L Cugola, N Cappello, P F Pignatti.   

Abstract

We have performed linkage analysis in seven Italian families, in which mild osteogenesis imperfecta (OI) segregated as a dominant trait, by means of six DNA restriction fragment length polymorphisms (RFLPs) of type I collagen genes. OI type I was linked to the alpha 1(I) gene (COL1A1) in two families, and to the alpha 2(I) gene (COL1A2) in one family. OI type IV segregated with COL1A2 in two families. In two OI type I families, the molecular genetic data were insufficient for exclusion of one gene. Four DNA polymorphisms were particularly informative for cosegregation analysis of OI in Italian kindreds.

Entities:  

Mesh：

Substances：

Year:  1990        PMID： 1972760      PMCID： PMC1017133          DOI： 10.1136/jmg.27.6.367

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  21 in total

1.  Frequency distribution of the alleles of several variable number of tandem repeat DNA polymorphisms in the Italian population.

Authors:  P Gasparini; E Trabetti; A Savoia; M Marigo; P F Pignatti
Journal:  Hum Hered       Date:  1990       Impact factor: 0.444

2.  Haplotype frequencies of the collagen type-I genes in the Italian population.

Authors:  M Mottes; L Cugola; P F Pignatti
Journal:  Hum Genet       Date:  1989-11       Impact factor: 4.132

Review 3.  Prenatal diagnosis in osteogenesis imperfecta.

Authors:  B Sykes; D Ogilvie
Journal:  Ann N Y Acad Sci       Date:  1988       Impact factor: 5.691

4.  Homozygous osteogenesis imperfecta unlinked to collagen I genes.

Authors:  K Aitchison; D Ogilvie; M Honeyman; E Thompson; B Sykes
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132

5.  Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.

Authors:  A Superti-Furga; F Pistone; C Romano; B Steinmann
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

6.  Osteogenesis imperfecta type IIA: evidence for dominant inheritance.

Authors:  I D Young; E M Thompson; C M Hall; M E Pembrey
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

7.  Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.

Authors:  E M Thompson; I D Young; C M Hall; M E Pembrey
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

8.  Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis.

Authors:  R Tenni; G Cetta; K Dyne; A Rossi; D Quacci; L Lenzi; A A Castellani
Journal:  Hum Genet       Date:  1988-07       Impact factor: 4.132

Review 9.  Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.

Authors:  D J Prockop; C D Constantinou; K E Dombrowski; Y Hojima; K E Kadler; H Kuivaniemi; G Tromp; B E Vogel
Journal:  Am J Med Genet       Date:  1989-09

Review 10.  Inherited disorders of collagen gene structure and expression.

Authors:  P H Byers
Journal:  Am J Med Genet       Date:  1989-09
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.