
sercal syndrome

sercal syndrome (laingika reversion, vrukkakal, adrenal, shwaasakosha disgenesis) XX manushyaril undaakunna oru autosomal resussive disorderaanu. laingika vikasanathil earppettirikkunna proteinaaya doubluenty4-leeii pravartthanam nashtappedunnathaanu ithinu kaaranam. sthree-purusha lingamaattamaanu pradhana phalam. mattu perukalil laingika reversion-kidnikal, adrenal, lung disgenesis syndrome enniva ulppedunnu. 1,000,000 ll eee avasthayude vyaapanam 1-ll thaazheyaan.
avatharanam.
sthree-purusha lingamaattamaanu eee rogathinte phalam. rogikal vrukka, adrenal, shwaasakosha disgenesis ennivayum prakadippikkunnu. maathru serathile ankanjugettad estriyolinte alavu kuravaanu oru soochakam, kaaranam ithu adrenal hypoplassy soochippikkunnu.
janithakashasthram.
eee takaraar "doubluenty4" jeenil oru mutationumaayi bandhappettirikkunnu. cdna sthaanam 341 ll oru intraexonic homocygus sii muthal tii vareyulla parivartthanam undu. ithu amino assid sthaanam 114 ll alanine muthal valin avashishtangal vare maattisthaapikkunnu, ithu seabrafish, drosophila ennivayulppede ellah jeevikalilum valareyadhikam samrakshikkappedunna oru sthalamaanu. mrna sthirathayil thudarnnulla swaadheenam protein pravartthanam nashtappedunnathilekku nayikkunnu. doubluenty4 saadhaaranayaayi purusha laingika vikasanathe adichamarthunnu.