4. XRCC1 Gene
DNA ligase and polymerase beta to participate in the base excision repair pathway.
GENE TYPE
FUNCTION
INTERACTIONS
Protein coding
member of the base excision repair pathway and corrects defective DNA strand-break repair and
sister chromatid exchange after treatment with ionizing radiation and alkylating agents.
Scaffolding action that allows enzymes to carry out their enzymatic steps.
5. Their aim was to “Investigate the
polymorphism at codon 194 (Arg to Trp) in
XRCC1 gene and the possible association of
its polymorphic genotypes with skin
cancer in the Kashmir population”
6. Kashmiri Population
Indo-European group from Jammu and Kashmir state
in northern India.
origins → unknown; It has been suggested that they
are descendants of one of the “lost tribes” of Israel or
from Greek sources.
Till date no data exists associating XRCC1 polymorphism
to susceptibility of skin cancer among Kashmiri
population.
8. BCC SCC MELANOMA
Flesh-colore,
pearl-like bump,
pinkish patch of skin.
looks red firm bum, scaly
patch, sore that heals
and then re-opens.
develops in a mole or
suddenly appears as a new
dark spot on the skin.
Causes
U V R A Y S
Places head, neck, and arms
rim of the ear, face,
neck, arms, chest,
and back.
Chest, back and legs
9. “Currently, it is estimated that exposure to UV
rays is associated with 65% of melanoma cases and
90% of non-melanoma skin cancers”
16. 1. AISLAMIENTO CON FENOL -
CLOROFORMO.
2. La calidad del ADN genómico
aislado se examinó mediante
electroforesis en gel, usando
gel de agarosa.
3. Gel se visualizó por un sistema
gel Doc .
18. - Ciclador térmico automatizado (eppendorf)
- Amplificar el objetivo deseado, es decir, el exón 6, codón 194 del gen XRCC1, utilizando de cebadores:
- Cebador directo: 50 -CCCCCCGTCCCAGGTA -30
- Cebador inverso: 50 -AGCCCCAAGACCCTTTCACT-30
- Basada en tres reacciones de ciclos repetitivos donde lo único que varía es la Tº de incubación:
1. ADN con la secuencia conocida se desnaturaliza a 95ºC
2. Se agrega el primer y los deoxinucleótidos, se baja la Tº a 50º y los primers se unen a su molde
3. Agrega la taq polimerasa para que extienda la secuencia en dos cadenas complementarias usando una
molde a 72ºC
20. El producto de PCR de 491 pb se digirió con
MspI para detectar el polimorfismo del
codón 194 del gen XRCC1.
MSPI (Precursor de la proteína de
superficie del merozoito 1) = c-g; 37º
OrganismO :Plasmodium falciparum
22. Amplificación= 491 pb Enzima=MSP1
Alelo C(Arg) determinado
por presencia de banda de
292 pb
Alelo T(Trp) determinado
por presencia de banda de
313 pn
Banda de 174 sitio de
corte que no varía en la
enzima CONTROL
23. -Para C/C se identificaron 2 bandas= 292 y 174 pb
-Para C/T se identificaron 3 bandas= 313, 292 y 174 pb
-Para T/T se identificaron 2 bandas= 313 y 174 pb
-Frecuencia de los 3 genotipos
+ C/C= 52,9% Control=73,33%
+ C/T=29,4% Control=18,3%
+ T/T=17,6% Control=8,4%
-Frecuencia alélica
+Arginina=67,7% Control=82,5%
+Triptofano=32,3% Control=17,5%
28. Conclusions
-The discrepancies in the results can be attributed to the
size of the sample studied
-The results were not conclusive but the 194Trp allele
showed some relevance to the initial approaches of the
article in predisposition to skin cancer
-In the predisposition to cancer, genotypic variants
interact with samples of specific population, contact with
mutagens, uv rays
-The genotypic variants in the XRCC1 gene did not show a
statesman relief or some association
