Summery Shamseldin
RTTN mutations cause primary microcephaly and primordial Dwarsfism in Humans.
Microcephaly is developmental brain anomaly results from defective proliferation of
neuroprogenitors. A lot of genes are mutation in autosomal-recessive microcephaly
in isolation or in association, but the genetic heterogeneity is more extensive. There
is taken place a research taken from a family who is affected by microcephalic
primordial dwarfism and tested negative on clinical exome sequencing. Combined
linkage analysis of the 2 families confirmed that RTTN maps to the only significant
linkage peak. The family was affected by microcephalic primordial dwarfism and
biallelic mutation of RTTN was identified.
Is about microcephaly and Dwarfism, it is about exome sequencing and how this
affect protein. They also look to runs of homozygosity.
I didn’t understand this report, maybe it becomes clear during the seminar.
Summery Lambert
It is about Alzheimer’s, 6% of 65+ population have this disease. Short term memory
is affected. They talk about APOE gene. Allele 4 increase Alzheimer’s risk, allele 2
decrease Alzheimer’s risk and allele 3 have neutral affect. APOE is well known
genetic risk factor for Alzheimer’s. They do genome wide association study. Compare
cases and controls. Also talk about eQTL (expression quantitative trait locus),
genomic locus that influence the expression level of mRNA. Can relate close to the
gene (cis) or far away (trans).
RTTN mutations cause primary microcephaly and primordial Dwarsfism in Humans.
Microcephaly is developmental brain anomaly results from defective proliferation of
neuroprogenitors. A lot of genes are mutation in autosomal-recessive microcephaly
in isolation or in association, but the genetic heterogeneity is more extensive. There
is taken place a research taken from a family who is affected by microcephalic
primordial dwarfism and tested negative on clinical exome sequencing. Combined
linkage analysis of the 2 families confirmed that RTTN maps to the only significant
linkage peak. The family was affected by microcephalic primordial dwarfism and
biallelic mutation of RTTN was identified.
Is about microcephaly and Dwarfism, it is about exome sequencing and how this
affect protein. They also look to runs of homozygosity.
I didn’t understand this report, maybe it becomes clear during the seminar.
Summery Lambert
It is about Alzheimer’s, 6% of 65+ population have this disease. Short term memory
is affected. They talk about APOE gene. Allele 4 increase Alzheimer’s risk, allele 2
decrease Alzheimer’s risk and allele 3 have neutral affect. APOE is well known
genetic risk factor for Alzheimer’s. They do genome wide association study. Compare
cases and controls. Also talk about eQTL (expression quantitative trait locus),
genomic locus that influence the expression level of mRNA. Can relate close to the
gene (cis) or far away (trans).
