scholarly journals Primary structure of the telopeptide and a portion of the helical domain of chicken type II procollagen as determined by DNA sequence analysis

1985 ◽  
Vol 229 (1) ◽  
pp. 189-196 ◽  
Author(s):  
F Deák ◽  
W S Argraves ◽  
I Kiss ◽  
K J Sparks ◽  
P F Goetinck
Keyword(s):  
Sequence Analysis ◽  
Dna Sequence ◽  
Primary Structure ◽  
Nucleotide Sequences ◽  
Dna Sequence Analysis ◽  
The Other ◽  
Cdna Clones ◽  
Type Ii ◽  
Lysine Residues ◽  
Replacement Site

A comparison of the nucleotide sequences of three new cDNA clones for chicken type II procollagen with the sequences of the other three types of chicken fibrillar procollagens reveals that the most conserved regions correlate with the positions of hydroxyproline, hydroxylysine, cysteine and lysine residues. On the basis of replacement-site-divergence calculations it is concluded that alpha 1(II) and alpha 1(I) procollagens diverged later than alpha 1(I) and alpha 2(I) procollagens.

scholarly journals Osteogenesis imperfecta: a literature review and a clinical case of a perinatal-lethal type of disease

2021 ◽  
pp. 226-234
Author(s):  
L. Ya. Klimov ◽  
T. M. Vdovina ◽  
V. A. Pechenkina ◽  
T. V. Zhelezniakova ◽  
I. N. Zakharova ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Osteogenesis Imperfecta ◽  
Dna Sequence ◽  
Clinical Case ◽  
Dna Sequence Analysis ◽  
Heterozygous Mutation ◽  
Osteogenesis Imperfecta Type ◽  
Type Ii ◽  
Col1a1 Gene

The article presents the modern views of clinicians and geneticists on one of the most severe genetic disorders of skeletal and connective tissues - osteogenesis imperfecta. The review provided the literature data that showed the incidence rates, genetic heterogeneity of osteogenesis imperfecta, as well as the role of some proteins involved in the construction of bone tissue, as well as a clinical classification of the main types of the disorder. The authors described a clinical case: a girl with typical clinical and radiological manifestations of the rarest of all types of osteogenesis imperfecta - type II (perinatal-lethal, congenital osteogenesis imperfecta, Vrolik’s syndrome). The child’s diagnosis was verified by a parallel DNA sequence analysis which showed a heterozygous mutation in exon 29 (c.1966G> A) of COL1A1 gene not previously described in the literature. It caused the substitution of glycine for serine at position 656. The role of antenatal diagnostics and the importance of medical genetic counselling of the family before planning the next pregnancy due to the existing risk of re-birth of a sick child is outlined. Due to the fact that majority of the patients with the most prognostically unfavourable type II osteogenesis imperfecta, as a rule, die in utero, the described case of observation of the girl with typical clinical and X-ray signs of the disorder for almost 3 months of postpartum period is extremely rare and highly indicative. The detection of the heterozygous mutation in exon 29 (c.1966G > A) of COL1A1 gene by a parallel DNA sequence analysis which was not previously described in the literature gives an additional significance to the described observation.

scholarly journals Identification of Driver and Passenger Mutations of FLT3 by High-Throughput DNA Sequence Analysis and Functional Assessment of Candidate Alleles

Cancer Cell ◽  
2007 ◽  
Vol 12 (6) ◽  
pp. 501-513 ◽  
Author(s):  
Stefan Fröhling ◽  
Claudia Scholl ◽  
Ross L. Levine ◽  
Marc Loriaux ◽  
Titus J. Boggon ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Dna Sequence ◽  
High Throughput ◽  
Functional Assessment ◽  
Dna Sequence Analysis ◽  
Passenger Mutations
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