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.
In this way, we determined how to mutagenize the worms to isolate appropriate deletion mutations
that were readily detectable with PCR and agarose gel electrophoresis.
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.
Comparison of those sequences revealed a 6 base-pair deletion mutation
from 1,001 bp to 1,006 bp in the exon (GenBank accession No.
africanum may be identified by spoligotyping (4), by specific deletion mutations
(5), DNA fingerprinting by IS6110 restriction fragment length polymorphisms (RFLP) (4), or a combination of these methods.
As a result, the deletion mutation
rate is much higher in mtDNA compared with that in nuclear DNA .
As shown in Table 1, 10 (43.5%), 4 (17.4%) and 4 (17.4%) 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.
During spring 1999, Beijing/262/95-like variants, containing a characteristic deletion mutation
at amino acid 134 of the HA gene, were isolated from 13 persons at a DOD-GEIS influenza surveillance site in Lima, Peru.
In addition to the duplication mutation, a deletion mutation
and point mutations in PMP22 have been described in patients with inherited peripheral neuropathies as well.[sup] The heterozygous deletion of PMP22 is the major cause for the disease, hereditary neuropathy with liability to pressure palsies (HNPP), whereas point mutations in PMP22 are connected with patients who display clinical features ranging from mild HNPP to severe CMT1.
Mutations in the plakoglobin (PKG; MIM 173325) and desmoplakin (DSP; MIM 125647) genes have been reported to cause the Naxos disease and the Carvajal syndrome, respectively.2,3 Furthermore, a homozygous deletion mutation
(c.1841delG) in desmocollin-2 (DSC2; MIM 125645) gene has been reported to be associated with cardiomyopathy and mild palmoplantar keratoderma in association with WH phenotype.4
Sequencing of polymerase chain reaction-amplified DNA of the entire coding regions and exon-intron boundaries of UGT1A1 (NM_000463.2) and ABCC2 (NM_000392.3) in the patient revealed two novel mutations [Figure 1]c: a heterozygous in-frame insertion deletion mutation
c.4712_4720delinsGGCCCACAG in exon 31, inherited from her father, and a heterozygous mutation p.I448V in exon 10, inherited from the mother.
In addition, of all reported DFNA5 mutations, a 3-bp deletion mutation
One of these had the CT deletion mutation
and c.579G (Fig.
Nineteen cell lines carried mutations of types generally known to be stable in human populations, specifically, various point mutations, a 3-bp cystic fibrosis deletion mutation
, and a large a-thalassemia deletion.