The aims of the present study were firstly, to describe the physical phenotype of affected Afrikaner patients with confirmed founder FANCA mutations, and secondly, to compare this phenotype with the physical phenotype in black South African patients with FA caused by the homozygous FANCG deletion mutations
described by Feben et al.
showed that a mitochondrial factor WAH-1 promotes this externalization through a scramblase, as demonstrated by a deletion mutation
of scrm-1 (SCRaMblase, tm698).
However, due to lack of flanking exons of hot spot region in this study, it is worthwhile or recommended to confirm the deletion mutation
by latest high-throughput next-generation techniques, namely, MLPA, direct sequencing or arrayCGH; the functional properties of the dystrophin proteins and to correlate such important cases for further appraisal.
The genotypes and clinical phenotypes of 1038 in-frame deletion mutation
cases were analyzed, and the numbers and percentages of cases that did not meet the reading-frame rule were calculated.
The exonic single base deletion mutations
in patients FA82, FA121 and FA199 all resulted in frameshift mutations.
Association analysis between the deletion mutation
and carcass and meat quality traits was performed also in 394 pigs of the "Large White x Meishan" [F.
africanum by spoligotyping, single nucleotide polymorphisms, a deletion mutation
, and phenotypic traits, confirming it as a cause of tuberculosis in the United States.
3) in the patient revealed two novel mutations [Figure 1]c: a heterozygous in-frame insertion deletion mutation
Interestingly all three mixed-ancestry families had at least one suspected deletion mutation
A novel deletion mutation
in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
As a result, the deletion mutation
rate is much higher in mtDNA compared with that in nuclear DNA .
4%) of the 23 MSIH endometrial carcinomas had the presence of a 1-, 2-, or 3-base deletion mutation
within this element, resulting in an A12, A11, or A10 repeats, respectively.