AHaeIII RFLP in COL1A1

COL1A1 gene

A particular mutation in the COL1A1 gene causes infantile cortical hyperostosis, commonly known as Caffey disease. The signs and symptoms of Caffey disease are usually apparent by the time an infant is 5 months old. This condition is characterized by swelling of soft tissues (muscles, for example), pain, and excessive new bone formation (hyperostosis). The bone abnormalities mainly affect the j...

Tracking Col1a1 RNA in Osteogenesis Imperfecta

This study illuminates the intra-nuclear fate of COL1A1 RNA in osteogenesis imperfecta (OI) Type I. Patient fibroblasts were shown to carry a heterozygous defect in splicing of intron 26, blocking mRNA export. Both the normal and mutant allele associated with a nuclear RNA track, a localized accumulation of posttranscriptional RNA emanating to one side of the gene. Both tracks had slightly elon...

Experimental murine myopia induces collagen type Iα1 (COL1A1) DNA methylation and altered COL1A1 messenger RNA expression in sclera

PURPOSE To investigate whether myopia development is associated with changes of scleral DNA methylation in cytosine-phosphate-guanine (CpG) sites in the collagen 1A1 (COL1A1) promoter and messenger RNA (mRNA) levels following murine form deprivation myopia. METHODS Fifty-seven C57BL/6 mice (postnatal day 23) were randomly assigned to four groups: (1) monocular form deprivation (MD) in which a...

Rflp principle pdf

TaqI RFLP at D21S137.

Chromosomal Localization: The 3 polymorphic bands were mapped to chromosome 22 using a somatic cell hybrid panel. The 2.1 kb constant band mapped to chromosome lq whereas all other constant bands mapped to chromosome 20. Whereas the active gene for hTOPl is located on chromosome 20ql 1.2—13.1, two pseudogenes are on chromosomes Iq23—24 and 22qll.2-13.1 (2). The sequences of hTOPl and the two ps...