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2. DEZECHILIBRU DE LINKAGE
4. NUTRIGENOMICA
5. PROTEOMICA
1. CARTOGRAFIEREA
CARACTERELOR MENDELIENE
Cartografierea genica=determinarea localizarii unei gene pe un
anumit cromozom.
Utilitate:
-intelegerea mecanismelor bolilor genetice,
-diagnosticul bolilor genetice,
-stabilirea riscului de recurenta in familie,
-eventual tratament.
CARTOGRAFIEREA CARACTERELOR
MENDELIENE
Realizarea unei harti complete a genomului uman , o
“enciclopedie a tuturor genelor si bolilor genetice associate lor”, a
devenit punctual cheie al geneticii .
-cartografierea genetica
-cartografierea fizica.
Cartografierea genetica
Cu cat distanta fizica intre gene este mai mare, cu atat creste
probabilitatea unui eveniment recombinant.
Cartografierea genetica
In March 2000, US President Bill Clinton and British Prime Minister Tony
Blair made a joint declaration that all genome information should
be free to the public.
www.ensemble.org
www.ncbi.nlm.nih.gov/genome
www.genome.ucsc.edu
Proiectul Genomului Uman
Intelegerea-functiei
-expresiei
-reglarii genelor
-rolul AND-ului intergenic, sunt date ce
trebuiesc completate
-variatiile genetice intre indivizi si
populatii..
Informatii despre fiecare gena-
portaluri Entrez, Ensembl, Gene Wiki
Gene: NF1 ENSG00000196712
Description
neurofibromin 1 [Source:HGNC Symbol;Acc:HGNC:7765]
Synonyms
VRNF, WSS, NFNS
Location
Chromosome 17: 31,094,927-31,382,116 forward strand.
GRCh38:CM000679.2
About this gene
This gene has 23 transcripts (splice variants), 79 orthologues, is a
member of 1 Ensembl protein family and is associated with 88
phenotypes!
NF1 (HGNC Symbol)
CCDS
This gene is a member of the Human CCDS set: CCDS11264.1, CCDS42292.1, CCDS45645.1
UniProtKB
This gene has proteins that correspond to the following UniProtKB identifiers: P21359
RefSeq
Overlapping RefSeq annotation not matched
Overlapping RefSeq Gene ID 4763 matches and has similar biotype of protein_coding
LRG
LRG_214 provides a stable genomic reference framework for describing sequence variants for this
gene
Ensembl version
ENSG00000196712.16
Other assemblies
This gene maps to 29,421,945-29,709,134 in GRCh37 coordinates.
View this locus in the GRCh37 archive: ENSG00000196712
Gene type
Known protein coding
Entrez
NEUROFIBROMIN 1; NF1
Leukemia, juvenile
607785 SMu, AD 3
myelomonocytic
Neurofibromatosis,
162210 AD 3
familial spinal
17q11.2
Neurofibromatosis,
162200 AD 3
type 1
Neurofibromatosis-
601321 AD 3
Noonan syndrome
Posibile aplicatii:
Conclusion:
Proteins identified as potential biomarkers for trisomy 21 using
proteomic techniques have not been found to be useful in early
screening for this aneuploidy
Studiul PAPR-nasterea prematura
Those with an MTHFR mutation are at risk for poor MTHFR enzyme
efficiency.
Consequently, folate and folic acid cannot be efficiently converted
into their active form, known as 5-MTHF or L-methylfolate. Therefore
those nutrients can’t perform one of their key functions: breaking
down (recycling) Homocysteine.
Homocysteine is an amino acid thought to damage the lining of
your arteries and other cells of the body. It is naturally formed in the
body, but gets broken down by 5-MTHF.
Elevated homocysteine levels in the blood is an independent risk
factor for heart disease,
MTHFR Mutation
They are also more likely to develop a folate deficiency if their diet is
not rich in folate!
MTHFR Mutation
Daily intake for folic acid is 400 μg.
Folic acid is the conventional supplement for treating B-vitamin
deficiency, lowering homocysteine levels, and reducing the
incidence of Neural Tube Defects!
It is so effective that the addition of folic acid back into to wheat
flour is now mandatory in Australia, USA, Canada and several other
countries.
FDA and European Food Standards Agency have approved several
products containing 5-MTHF.
Va multumesc!