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ETHNIC DISPARITY IN 21-HYDROXYLASE GENE MUTATIONSIDENTIFIED IN PAKISTANI CONGENITAL ADRENALHYPERPLASIA PATIENTS<br />Aysha...
INTRODUCTION<br />CONGENITAL ADRENAL HYPERPLASIA (CAH).<br /><ul><li>Autosomalrecessivedisorder.
Characterizedbydefects in any of thefiveenzymesrequiredtosintheside cortisol, primarity of 21 hidroxylaseenzyme (21OH).
Itdeficiencyresults in reducedsynthesis of cortisol and aldosterone.</li></li></ul><li>INTRODUCTION<br /> CAH phenotypesva...
Thepartialenzymedeficiency:  Classic simple virilization (SV-CAH), presentingwith prenatal virilization in females and pse...
ClinicalDiversity in CAH isprimarityduetomutations, CYP21A2, gene whichencodes 21 OH.</li></li></ul><li>INTRODUCTION<br />...
 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 a...
The adrenal hyperplasia was classified by phenotypes that vary with the degree of enzime deficiency.</li></li></ul><li>GEN...
MATERIALES Y METODOS<br />POBLACIÓN DE ESTUDIO<br />Diagnostico de hiperplasia suprarrenal congénita. <br />Presentación C...
MATERIALES Y METODOS<br /><ul><li>Hirsutismo
Acné
Pubertad precoz</li></li></ul><li><ul><li>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.</li></ul>MATERIALES Y METODOS<br />
MATERIALES Y METODOS<br />PCR: En  esta técnica de laboratorio se tiene como objetivo la amplificación directa de un gen o...
MATERIALES Y METODOS<br />PCR – ARMS: (sistema refractario de una amplificación)  Se utiliza dos cebadores idénticos en su...
RESULTADOS<br />
RESULTADOS<br />
RESULTADOS<br />
DISCUSSION<br />
CONCLUSIONS<br />1. Themainimportant of thiswork, goesaroundperson`slive, becausewhenparentshavetotakethoseharddecitionssc...
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Congenital Adrenal Hyperplasia (CAH)

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Transcript of "Congenital Adrenal Hyperplasia (CAH)"

  1. 1. ETHNIC DISPARITY IN 21-HYDROXYLASE GENE MUTATIONSIDENTIFIED IN PAKISTANI CONGENITAL ADRENALHYPERPLASIA PATIENTS<br />Aysha H Khan1, Muniba Aban1, Jamal Raza2, Naeemul Haq3, Abdul Jabbar3, Tariq Moatter1<br />Manuela Amaya Cossio<br />Manuela Zapata Arismendy.<br />Molecular Biology<br />III Semester<br />
  2. 2. INTRODUCTION<br />CONGENITAL ADRENAL HYPERPLASIA (CAH).<br /><ul><li>Autosomalrecessivedisorder.
  3. 3. Characterizedbydefects in any of thefiveenzymesrequiredtosintheside cortisol, primarity of 21 hidroxylaseenzyme (21OH).
  4. 4. Itdeficiencyresults in reducedsynthesis of cortisol and aldosterone.</li></li></ul><li>INTRODUCTION<br /> CAH phenotypesvarywhitthedregree of theenzymedeficiency:<br /><ul><li>Complete DeficiencyEnzyme: Prenatalvirilization in newbornsfemales and saltwasting (SW – CAH), in bothsexes, in the neonatal period.
  5. 5. Thepartialenzymedeficiency: Classic simple virilization (SV-CAH), presentingwith prenatal virilization in females and pseudoprecosiauspuberty in bothsexes.</li></li></ul><li>INTRODUCTION<br /><ul><li>Milddeficiency of 21OH: Causes non classicaldisease (NC – CAH) withpseudoprecociuspuberty, hirsutism, acne, and reduce fertility at laterage.
  6. 6. ClinicalDiversity in CAH isprimarityduetomutations, CYP21A2, gene whichencodes 21 OH.</li></li></ul><li>INTRODUCTION<br />CYP21A2 GENE FUNCTIONS<br /><ul><li> The CYP21A2 gene function is encode the 21-hidroxylase enzyme (21OH)
  7. 7. It´s located within the human leukocyte antigen class III region on the short arm of cromosome 6.
  8. 8. This has a highly homologous pseudo gene CYP21A1P.
  9. 9. 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.</li></li></ul><li>INTRODUCTION<br />RELATIONSHIP BETWEEN CAH AND CYP21A2 GENE<br /><ul><li>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.
  10. 10. The adrenal hyperplasia was classified by phenotypes that vary with the degree of enzime deficiency.</li></li></ul><li>GENERALOBJECTIVE<br />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<br />
  11. 11. MATERIALES Y METODOS<br />POBLACIÓN DE ESTUDIO<br />Diagnostico de hiperplasia suprarrenal congénita. <br />Presentación Clínica<br />Evaluación Bioquímica<br />Investigación hormonal<br />SW (Derrochador de sal) <br />SV<br />(Virilizacion simple)<br />Nivel sodio<br />Nivel de potasio<br />17 hidroxi - progesterona<br />NC <br />(No clásica)<br />
  12. 12. MATERIALES Y METODOS<br /><ul><li>Hirsutismo
  13. 13. Acné
  14. 14. Pubertad precoz</li></li></ul><li><ul><li>Muestras de sangre con EDTA.
  15. 15. ADN genómico extraído de los leucocitos, con promega.
  16. 16. ADN purificado fue proyectado por mutaciones en el gen CYP21A2 utilizando PCR- ARMS.</li></ul>MATERIALES Y METODOS<br />
  17. 17. MATERIALES Y METODOS<br />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.<br />
  18. 18. MATERIALES Y METODOS<br />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.<br />
  19. 19. RESULTADOS<br />
  20. 20. RESULTADOS<br />
  21. 21. RESULTADOS<br />
  22. 22. DISCUSSION<br />
  23. 23. CONCLUSIONS<br />1. Themainimportant of thiswork, goesaroundperson`slive, becausewhenparentshavetotakethoseharddecitionsscienceshouldbetherehelpingthem.<br />2. Wolrdisnotpreparedforpersosnthatneedspecialatention, and i thinkthisarms-pcr examen should`vebeen done lot of time, givingpatients a betterlive and psycologicaldevelopment.<br />
  24. 24. CONCLUSIONS<br />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. <br />
  25. 25. CONCLUSIONS<br />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. <br />
  26. 26. BIBLIOGRAFIA<br /><ul><li> Martínez. LM, Biología Molecular: Libro de clase, Sexta Edición, Editorial Universidad Pontificia Bolivariana, Medellín, 2011.</li></li></ul><li>
  27. 27.
  28. 28. GRACIAS!<br />
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