scholarly journals Variable Levels of a Heteroplasmic Point Mutation in Individual Hair Roots

1997 ◽  
Vol 61 (6) ◽  
pp. 1303-1308 ◽  
Author(s):  
Kate E. Bendall ◽  
Vincent A. Macaulay ◽  
Bryan C. Sykes
Keyword(s):  
Point Mutation ◽  
Hair Roots ◽  
Heteroplasmic Point Mutation

A novel heteroplasmic point mutation in the mitochondrial tRNALys gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring

1999 ◽  
Vol 13 (3) ◽  
pp. 203-209 ◽  
Author(s):  
Massoud Houshmand ◽  
Christopher Lindberg ◽  
Ali-Reza Moslemi ◽  
Anders Oldfors ◽  
Elisabeth Holme
Keyword(s):  
Point Mutation ◽  
De Novo ◽  
Sporadic Case ◽  
Mitochondrial Encephalomyopathy ◽  
De Novo Mutation ◽  
Heteroplasmic Point Mutation

A heteroplasmic point mutation of mitochondrial tRNA Leu(CUN) in non‐lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroblastic anaemia

1996 ◽  
Vol 93 (4) ◽  
pp. 845-855 ◽  
Author(s):  
Norbert Gattermann ◽  
Stefan Retzlaff ◽  
Yan‐Ling Wang ◽  
Mark Berneburg ◽  
Jürgen H einisch ◽  
...  
Keyword(s):  
Point Mutation ◽  
Mitochondrial Trna ◽  
Cell Lineages ◽  
Sideroblastic Anaemia ◽  
Heteroplasmic Point Mutation

Paris I Dysfibrinogenemia: A Point Mutation in Intron 8 Results in Insertion of a 15 Amino Acid Sequence in the Fibrinogen γ-Chain

1993 ◽  
Vol 69 (03) ◽  
pp. 217-220 ◽  
Author(s):  
Jonathan B Rosenberg ◽  
Peter J Newman ◽  
Michael W Mosesson ◽  
Marie-Claude Guillin ◽  
David L Amrani
Keyword(s):  
Amino Acid ◽  
Amino Acid Sequence ◽  
Point Mutation ◽  
Genomic Dna ◽  
Comparative Sequence Analysis ◽  
Chain Gene ◽  
Molecular Defect ◽  
Nucleotide Position ◽  
Normal Individuals ◽  
Polymerase Chain

SummaryParis I dysfibrinogenemia results in the production of a fibrinogen molecule containing a functionally abnormal γ-chain. We determined the basis of the molecular defect using polymerase chain reaction (PCR) to amplify the γ-chain region of the Paris I subject’s genomic DNA. Comparative sequence analysis of cloned PCR segments of normal and Paris I genomic DNA revealed only an A→G point mutation occurring at nucleotide position 6588 within intron 8 of the Paris I γ-chain gene. We examined six normal individuals and found only normal sequence in this region, indicating that this change is not likely to represent a normal polymorphism. This nucleotide change leads to a 45 bp fragment being inserted between exons 8 and 9 in the mature γparis I chain mRNA, and encodes a 15 amino acid insert after γ350 [M-C-G-E-A-L-P-M-L-K-D-P-C-Y]. Alternative splicing of this region from intron 8 into the mature Paris I γ-chain mRNA also results after translation into a substitution of S for G at position γ351. Biochemical studies of 14C-iodoacetamide incorporation into disulfide-reduced Paris I and normal fibrinogen corroborated the molecular biologic predictions that two additional cysteine residues exist within the γpariS I chain. We conclude that the insertion of this amino acid sequence leads to a conformationallyaltered, and dysfunctional γ-chain in Paris I fibrinogen.

Skeletal and bone material phenotype in recessive osteogenesis imperfecta due to a novel homozygous point mutation in TMEM38B

2015 ◽  
Author(s):  
Emma Webb ◽  
Meena Balasubramanian ◽  
Trevor Cole ◽  
Sue Stewart ◽  
Nicola Crabtree ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Point Mutation ◽  
Bone Material
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