founder mutation

Larger populations tend to have a greater number of founder mutations but none is very common.

The presence of founder mutations has practical implications for genetic testing.

Founder mutations have been observed in certain populations.

Other genes also have reported founder mutations.

This is unusual, they said, because such "founder mutations" usually are restricted to specific ethnic groups or relatively isolated populations.

"In fact, this founder mutation might be related to many colon cancer cases in the United States."

The BRCA1 5382insC founder mutation was not tested in this series.

Of those women, 233 tested positive for so-called founder mutations in BRCA1.

Dr. Albert de la Chappelle discovered the founder mutation in cancer.

Founder mutations initiate with changes that occur in the DNA and can be passed down to other generations.

Additional examples of founder mutations in BRCA2 are given in the table below.

Letouzé et al. used IBD mapping to look for founder mutations in cancer samples.

Additional examples of founder mutations in BRCA1 are given in Table 1 (mainly derived from ).

Founder mutations originate in long stretches of DNA on a single chromosome-indeed, the original haplotype is the whole chromosome.

Certain founder mutations can also occur in some populations, such as the deletion exon 12-31 mutation, which accounts for 60% of mutations in Afrikaners.

Larger populations have more different kinds of founder mutation, though each is less common, doubtless making for the same overall burden of genetic disease, Dr. Collins said.

After mapping torsion dystonia by linkage disequilibrium (LD) analysis he found it was genetically dominant and was a founder mutation.

In genetics, a founder mutation is a mutation that appears in the DNA of one or more individuals who are founders of a distinct population.

Davis Jewish General Hospital has discovered a founder mutation that is an important cause of inherited colorectal cancer in the Ashkenazi Jewish population.

A striking example of a founder mutation is found in Iceland, where a single BRCA2 (999del5) mutation accounts for virtually all breast/ovarian cancer families.

Recently, investigators identified a rare founder mutation in a DC susceptibility gene that will be included in future genetic carrier screening panels for Ashkenazi Jews.

In the Ashkenazi Jewish population, two ABCC8 founder mutations are responsible for approximately 97% of FHI.

Founder mutations in hereditary non-polyposis colorectal cancer (HNPCC) genes in Quebec colorectal cancer families.

Many of these studies were not sufficiently powered to rule out a lower, but clinically significant, risk of prostate cancer in carriers of Ashkenazi BRCA founder mutations.

Several studies in Israel and in North America have analyzed the frequency of BRCA founder mutations among Ashkenazi Jewish (AJ) men with prostate cancer.