Congenital Adrenal Hyperplasia (CAH)
Upcoming SlideShare
Loading in...5
×
 

Congenital Adrenal Hyperplasia (CAH)

on

  • 1,117 views

 

Statistics

Views

Total Views
1,117
Views on SlideShare
1,117
Embed Views
0

Actions

Likes
0
Downloads
44
Comments
1

0 Embeds 0

No embeds

Accessibility

Upload Details

Uploaded via as Microsoft PowerPoint

Usage Rights

© All Rights Reserved

Report content

Flagged as inappropriate Flag as inappropriate
Flag as inappropriate

Select your reason for flagging this presentation as inappropriate.

Cancel
  • Full Name Full Name Comment goes here.
    Are you sure you want to
    Your message goes here
    Processing…
Post Comment
Edit your comment

Congenital Adrenal Hyperplasia (CAH) Congenital Adrenal Hyperplasia (CAH) Presentation Transcript

  • ETHNIC DISPARITY IN 21-HYDROXYLASE GENE MUTATIONSIDENTIFIED IN PAKISTANI CONGENITAL ADRENALHYPERPLASIA PATIENTS
    Aysha H Khan1, Muniba Aban1, Jamal Raza2, Naeemul Haq3, Abdul Jabbar3, Tariq Moatter1
    Manuela Amaya Cossio
    Manuela Zapata Arismendy.
    Molecular Biology
    III Semester
  • INTRODUCTION
    CONGENITAL ADRENAL HYPERPLASIA (CAH).
    • Autosomalrecessivedisorder.
    • Characterizedbydefects in any of thefiveenzymesrequiredtosintheside cortisol, primarity of 21 hidroxylaseenzyme (21OH).
    • Itdeficiencyresults in reducedsynthesis of cortisol and aldosterone.
  • INTRODUCTION
    CAH phenotypesvarywhitthedregree of theenzymedeficiency:
    • Complete DeficiencyEnzyme: Prenatalvirilization in newbornsfemales and saltwasting (SW – CAH), in bothsexes, in the neonatal period.
    • Thepartialenzymedeficiency: Classic simple virilization (SV-CAH), presentingwith prenatal virilization in females and pseudoprecosiauspuberty in bothsexes.
  • INTRODUCTION
    • Milddeficiency of 21OH: Causes non classicaldisease (NC – CAH) withpseudoprecociuspuberty, hirsutism, acne, and reduce fertility at laterage.
    • ClinicalDiversity in CAH isprimarityduetomutations, CYP21A2, gene whichencodes 21 OH.
  • INTRODUCTION
    CYP21A2 GENE FUNCTIONS
    • The CYP21A2 gene function is encode the 21-hidroxylase enzyme (21OH)
    • It´s located within the human leukocyte antigen class III region on the short arm of cromosome 6.
    • This has a highly homologous pseudo gene CYP21A1P.
    • Both have 3-4 kb long and each gene consists of 10 exons. 95% of the CAH cases are caused by a specific point mutations an deletions in the CYP21A2 gene.
  • INTRODUCTION
    RELATIONSHIP BETWEEN CAH AND CYP21A2 GENE
    • Thisdiseaseiscausedby CYP21A2 gene mutation, causing in the adrenal a partialor total decrease in the cortisol and aldostoroneproduction, therefore in thepatientsisevidence a malephenotype in femaleneonate, orsaltwasting in bothsexes.
    • The adrenal hyperplasia was classified by phenotypes that vary with the degree of enzime deficiency.
  • GENERALOBJECTIVE
    Correlate genotype with the phenotype in a randomly selected cohort of congenital adrenal hyperplasia patients, will facility and promote prenatal diagnostic of disease, in the Pakistan population throgh the knowledge of the mutations in CYP21A2 gene
  • MATERIALES Y METODOS
    POBLACIÓN DE ESTUDIO
    Diagnostico de hiperplasia suprarrenal congénita.
    Presentación Clínica
    Evaluación Bioquímica
    Investigación hormonal
    SW (Derrochador de sal)
    SV
    (Virilizacion simple)
    Nivel sodio
    Nivel de potasio
    17 hidroxi - progesterona
    NC
    (No clásica)
  • MATERIALES Y METODOS
    • Hirsutismo
    • Acné
    • Pubertad precoz
    • Muestras de sangre con EDTA.
    • ADN genómico extraído de los leucocitos, con promega.
    • ADN purificado fue proyectado por mutaciones en el gen CYP21A2 utilizando PCR- ARMS.
    MATERIALES Y METODOS
  • MATERIALES Y METODOS
    PCR: En esta técnica de laboratorio se tiene como objetivo la amplificación directa de un gen o de un fragmento de DNA, o indirecta de RNA. Esta se basa en la amplificación enzimática in vitro la cual es el incremento geométrico del numero de copias de una secuencia particular del DNA.
  • MATERIALES Y METODOS
    PCR – ARMS: (sistema refractario de una amplificación) Se utiliza dos cebadores idénticos en su secuencia excepto en su nucleótido 3'. Uno tiene el nucleótido 3' complementario al gen salvaje, mientras que el otro cebador 3' es complementario al gen mutado. La amplificación sólo ocurrirá con emparejamientos perfectos, con lo que dependiendo de si el cebador (primer) origine una señal positiva, podremos distinguir el gen salvaje del gen mutado, ARMS es un método especialmente sensible para la detección de mutaciones.
  • RESULTADOS
  • RESULTADOS
  • RESULTADOS
  • DISCUSSION
  • CONCLUSIONS
    1. Themainimportant of thiswork, goesaroundperson`slive, becausewhenparentshavetotakethoseharddecitionsscienceshouldbetherehelpingthem.
    2. Wolrdisnotpreparedforpersosnthatneedspecialatention, and i thinkthisarms-pcr examen should`vebeen done lot of time, givingpatients a betterlive and psycologicaldevelopment.
  • CONCLUSIONS
    3. In this study of congenital adrenal hyperplasia, it reported major problems on births associated with this pathology, principally the presence of sexual ambiguity, because this genetic defect may be know before the birth, for improvement the quality  of life in this patients.
  • CONCLUSIONS
    4. The relationship between phenotype and genotype, gives a clearer approach to congenital adrenal hyperplasia. This disease is expressed with different signs and symptoms that make the medical consultation will be directly aimed at a specified classification, and according to a  diagnosis may be hormone deficiency due to total or partial absence of the enzyme.
  • BIBLIOGRAFIA
    • Martínez. LM, Biología Molecular: Libro de clase, Sexta Edición, Editorial Universidad Pontificia Bolivariana, Medellín, 2011.
  • GRACIAS!