More than 260 point mutations
and deletions are accused of causing diseases such as carcinoma and neurodegeneration (23).
Until 2005, genetic cause of these hematological diseases was not clear.In the year 2005, a single point mutation
(JAK2V617F) in the cytoplasmic tyrosine kinase JAK2 gene was proposed by several researchers in most of patients with PV, ET and PMF.4,6,10 Jak 2 gene is situated on chromosome 9p.24
This demonstrates how targeted sequencing can reliably detect CNVs, enabling combined point mutation
and CNV detection in a single assay.
Substitutions of a G for an A in certain parts of the DNA represent about 15 percent of disease-associated point mutations
. In September, Chinese researchers reported that they used one of these editing tools in an embryo to remove the genetic mutation that causes anemia.
Mariotti et al., "Frataxin gene point mutations
in Italian Friedreich ataxia patients," neurogenetics, vol.
Detection of minority point mutations
by modified PCR technique: a new approach for a sensitive diagnosis of tumor-progression markers.
All are heterozygous for a point mutation
of the short stature homeobox-containing (SHOX) gene that was included in SHOX database (http:// grenada.lumc.nl/LOVD2/MR/home.php) but corresponding phenotype was not reported.
The intron 22 inversion was detected in three patients, while point mutations
were identified in five patients: two nonsense (p.S872* and p.R1985*) and three missense (p.G190C, p.D1260E and p.M2257V).
: ABSTRACTBackground and Objective: This study was conducted to determine the common mutation of low density lipoprotein receptor in patients with familial hypercholesterolemia (FH) in our population and identify the different point mutation
in the LDL-receptor gene.
Different sets of point mutations
have been reported by different groups (Table I).
in MTCO II gene have been reported in several neurodegenerative diseases [16-18] and cancer .
Genotype MTBDRplus LJ proportion DST method Total INH resistant INH sensitive INH resistant 32 0 32 INH sensitive 3 19 22 Total 35 19 54 TABLE 5: Point mutations
observed using Genotype MTBDRplus assay.