Posts

ANOMALIES ASSOCIATED WITH MULLERIAN DUCT.

Image
                A nomalies associated with MULLERIAN DUCT MULLERIAN AGENESIS:    various reproductive structures like fallopian tubes ,uterus ,cervix and upper 2/3rd of vagina 👉 not formed. lower 1/3rd of vagina 👉formed by urinogenital sinus 👉leading to formation of blind pouch of vagina.👇 image source:ScienceDirect.com Ovaries are formed because of presence of genital ridge. secondary sexual characters also are developed👉because of normal pituitary functioning. pituitary👉FSH and LH👉act upon ovaries👉release hormones👉estrogen and progesterone 👉normal secondary sexual characters. MAYER ROKITANSKY -KUSTER-HAUSER SYNDROME Mullerian  agenesis +renal anomaly +skeletal anomaly👉MRKH syndrome. in MRKH ,genotype is normal female genotype. symptoms : Amenorrhea,pain during sexual discourse treatment:surrogacy and vaginoplasty. image source :inviTRA               UNICORNUATE UTERUS(banana shaped ut...

SICKLE CELL ANAEMIA(point mutation)

Image
                        SICKLE CELL ANAEMIA(A GENETIC DISORDER)                                                    GENETIC BASIS Source of figure : PBworks HBB gene is responsible for production of HBB protein → present on chromosome no.11 👉on the short arm at 15.5 position at 𝛃 globin locus as shown in figure. mutation in this gene loci results in defective protein formation.  𝝱 globin gene codes for 𝝱 globin chain of the hemoglobin . Due, to defective 𝝱 gene defective 𝝱 globin chain is formed causing SICKLE CELL ANAEMIA(HBS) This mutation results in sickle shaped structure of the RBCs and hence the name 👉SICKLE CELL  ANAEMIA.....                                 MOLECULAR BASIS IN NORMAL HAEMOGLOBIN, ...