scholarly journals Fanconi anemia gene variants in therapy-related myeloid neoplasms

2015 ◽  
Vol 5 (7) ◽  
pp. e323-e323 ◽  
Author(s):  
M T Voso ◽  
E Fabiani ◽  
Z Zang ◽  
L Fianchi ◽  
G Falconi ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Gene Variants ◽  
Myeloid Neoplasms ◽  
Fanconi Anemia Gene

scholarly journals Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population

Blood ◽  
1995 ◽  
Vol 86 (11) ◽  
pp. 4034-4038 ◽  
Author(s):  
PC Verlander ◽  
A Kaporis ◽  
Q Liu ◽  
Q Zhang ◽  
U Seligsohn ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Carrier Frequency ◽  
Jewish Population ◽  
Genomic Structure ◽  
Autosomal Recessive Disorder ◽  
Amplification Refractory Mutation System ◽  
Ashkenazi Jewish ◽  
Coding Region ◽  
Ashkenazi Jewish Population ◽  
Fanconi Anemia Gene

Fanconi anemia (FA) is a genetically and phenotypically heterogeneous autosomal recessive disorder defined by a cellular hypersensitivity to DNA cross-linking agents. One of the FA genes, FAC, has been cloned and the genomic structure of the coding region has been characterized. We have developed amplification refractory mutation system (ARMS) assays for five known mutations in FAC, and have applied these assays to determine the carrier frequency of the IVS4 + 4 A-->T (IVS4) mutation in an Ashkenazi Jewish population. We tested 3,104 Jewish individuals, primarily of Ashkenazi descent, for the two most common FAC mutations, IVS4 and 322delG. Thirty-five IVS4 carriers were identified, for a carrier frequency of 1 in 89 (1.1%; 95% confidence interval 0.79% to 1.56%); no 322delG carriers were found. To determine if the IVS4 mutation was confined to the Ashkenazi Jewish population, we tested 563 Iraqi Jews for IVS4, and no carriers were found. Because the IVS4 mutation has only been found on chromosomes of Ashkenazi Jewish origin and is the only FAC mutation found on these chromosomes, we suggest that a founder effect is responsible for the high frequency of this mutation. With a carrier frequency greater than 1% and simple testing available, the IVS4 mutation merits inclusion in the battery of tests routinely provided to the Jewish population.

scholarly journals Positional Cloning of a Novel Fanconi Anemia Gene, FANCD2

2001 ◽  
Vol 7 (2) ◽  
pp. 241-248 ◽  
Author(s):  
Cynthia Timmers ◽  
Toshiyasu Taniguchi ◽  
James Hejna ◽  
Carol Reifsteck ◽  
Lora Lucas ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Positional Cloning ◽  
Fanconi Anemia Gene

scholarly journals Gene-specific selection against experimental fanconi anemia gene inactivation in human cancer

2007 ◽  
Vol 6 (5) ◽  
pp. 654-660 ◽  
Author(s):  
Eike Gallmeier ◽  
Tomas Hucl ◽  
Eric S. Calhoun ◽  
Steven C. Cunningham ◽  
Fred Bunz ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Human Cancer ◽  
Gene Inactivation ◽  
Fanconi Anemia Gene

scholarly journals Fanconi Anemia Gene Editing by the CRISPR/Cas9 System

2015 ◽  
Vol 26 (2) ◽  
pp. 114-126 ◽  
Author(s):  
Mark J. Osborn ◽  
Richard Gabriel ◽  
Beau R. Webber ◽  
Anthony P. DeFeo ◽  
Amber N. McElroy ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Gene Editing ◽  
Fanconi Anemia Gene

Correction of mutant Fanconi anemia gene by homologous recombination in human hematopoietic cells using adeno-associated virus vector

2009 ◽  
Vol 11 (11) ◽  
pp. 1012-1019 ◽  
Author(s):  
Kittiphong Paiboonsukwong ◽  
Fumi Ohbayashi ◽  
Haruka Shiiba ◽  
Emi Aizawa ◽  
Takayuki Yamashita ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
Fanconi Anemia ◽  
Hematopoietic Cells ◽  
Virus Vector ◽  
Adeno Associated Virus ◽  
Fanconi Anemia Gene

scholarly journals The Fanconi Anemia Gene Product FANCF Is a Flexible Adaptor Protein

2004 ◽  
Vol 279 (38) ◽  
pp. 39421-39430 ◽  
Author(s):  
France Léveillé ◽  
Eric Blom ◽  
Annette L. Medhurst ◽  
Patrick Bier ◽  
El Houari Laghmani ◽  
...  
Keyword(s):  
Gene Product ◽  
Fanconi Anemia ◽  
Adaptor Protein ◽  
Fanconi Anemia Gene
Sign in / Sign up

Export Citation Format

Share Document