The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene

1990 ◽  
Vol 86 (2) ◽  
Author(s):  
D.S. Millar ◽  
R.A. Steinbrecher ◽  
K. Wieland ◽  
C.B. Grundy ◽  
U. Martinowitz ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Factor Viii ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Haemophilia A ◽  
Factor Viii Gene

Molecular genetic analysis of a novel form of haemophilia a characterized by the variable expression of factor VIII

1990 ◽  
Vol 59 (5) ◽  
pp. 871-877 ◽  
Author(s):  
K. Wieland ◽  
L.-P. Berg ◽  
V.V. Kakkar ◽  
D.N. Cooper ◽  
U. Martinowitz
Keyword(s):  
Genetic Analysis ◽  
Factor Viii ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Haemophilia A ◽  
Variable Expression

scholarly journals Molecular genetic analysis of left–right handedness in plants

2002 ◽  
Vol 357 (1422) ◽  
pp. 799-808 ◽  
Author(s):  
Takashi Hashimoto
Keyword(s):  
Arabidopsis Thaliana ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Cortical Microtubule ◽  
Molecular Genetic Analysis ◽  
Left Handed ◽  
Helical Growth ◽  
Molecular Components ◽  
Axial Organs

Handedness in plant growth may be most familiar to us when we think of tendrils or twining plants, which generally form consistent right– or left–handed helices as they climb. The petals of several species are sometimes arranged like fan blades that twist in the same direction. Another less conspicuous example is ‘circumnutation’, the oscillating growth of axial organs, which alternates between a clockwise and an anti–clockwise direction. To unravel molecular components and cellular determinants of handedness, we screened Arabidopsis thaliana seedlings for helical growth mutants with fixed handedness. Recessive spiral1 and spiral2 mutants show right–handed helical growth in roots, hypocotyls, petioles and petals; semi–dominant lefty1 and lefty2 mutants show opposite left–handed growth in these organs. lefty mutations are epistatic to spiral mutations. Arabidopsis helical growth mutants with fixed handedness may be impaired in certain aspects of cortical microtubule functions, and characterization of the mutated genes should lead us to a better understanding of how microtubules function in left–right handedness in plants.

scholarly journals Molecular-genetic characterization of the human non-hypervariable GC-rich minisatellite UPS29 of gene CENTB5

2007 ◽  
Vol 5 (3) ◽  
pp. 35-45 ◽  
Author(s):  
Irina O Suchkova ◽  
Daria M Shubina ◽  
Ludmila K Sasina ◽  
Natalia O Slominska ◽  
Vadim B Vasilyev ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
In Silico ◽  
Genetic Characterization ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
First Time ◽  
Molecular Genetic Characterization

Human minisatellite UPS29 localized in one of CENTB5 introns was studied in silico and using molecular genetic analysis. For the first time there were revealed seven UPS29 alleles which contained 6-24 repeated units. Allele consisting of 17 repeats was prevailed (91,5 %). Frequency of other alleles varied from 0,29 % to 4,39 %. UPS29 heterozygosity was 12,3 %. Minisatellite UPS29 was classified as low polymorphic and non hypervariable.

A 20.7 kb Deletion within the Factor VIII Gene Associated with LINE-1 Element Insertion

1998 ◽  
Vol 79 (05) ◽  
pp. 938-942 ◽  
Author(s):  
Neil Van de Water ◽  
Ruth Williams ◽  
Paul Ockelford ◽  
Peter Browett
Keyword(s):  
Factor Viii ◽  
Molecular Mechanisms ◽  
Haemophilia A ◽  
Factor Viii Gene ◽  
Normal Sequence ◽  
Large Deletions ◽  
Flanking Region ◽  
Long Range Pcr ◽  
L1 Element

SummaryLarge deletions within the factor VIII gene account for approximately 5% of the mutations causing haemophilia A. The characterization of such mutations can provide insights into the molecular mechanisms of these and other deletions in man. We have analyzed a 20.7 kb deletion spanning exons 15 to 20 within the factor VIII gene in a patient with severe haemophilia A. Long range PCR was used to investigate the extent of the deletion and to provide a template for sequencing across the deletion breakpoint. A 38-base insertion homologous to the 3’ region of a LINE-1 (L1) element was detected at the breakpoint of the deletion. Normal sequence at the 5’ breakpoint in intron 14 was homologous to an L1 flanking region and normal sequence at the 3’ breakpoint in intron 20 was homologous to an adjacent sequence within the same L1 flanking region. A molecular mechanism for the deletion involving retrotransposition of a readthrough product of an L1 element plus its 3’ flanking region is suggested.

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