allelic bhinnatvam

allelic heterogenity anedi oke sthaanamlo ververu utparivartanalu oke ledhaa chaalaa saaruupya samalakshanhaalaku daariteese drugvishayam. eee yugmavikalpa vaividhyaalu sahaja empika prakriyala phalitamgaa, bahya utparivartana, janyu chalanam ledhaa janyu valasala phalitamgaa talettavachhu. eee utparivartanallo chaalaa varaku oke nucleotide bahuroopata roopaanni teesukuntaayi, dheenilo ekaabhipraaya kramaanni polchithe oke nucleotide bays maarchabadutundi. avi coppy number vaeriyantlu (cnv) gaa kooda undavacchu, dheenilo janyuvu ledhaa dna kramam yokka kaapeelu janaabhaaku bhinnamgaa untaayi.
allelic bhinnatvaanni vyaktam chese utparivartana yugmavikalpalanu anukuula ledhaa ananukuulamgaa vargeekarinchavachhu. eee utparivartanalu suukshmakrimula rekha kanaalalo, somatic kanaalalo ledhaa mitochondriallo sambhavinchavachhu. suukshmakrimula rekha kanaalalo utparivartanalu vaarasatvamgaa alaage mitochondrial allelic utparivartanalu kooda kaavacchu. mitochondrial allelic utparivartanalu prasuutigaa vaarasatvamgaa vastaayi. saadhaaranamgaa maanava janyuvulo oka janabhalo oka nirdishta sthaanamlo kanipinche utparivartanaala yokka ~75% kuu chinna mottamlo yugmavikalpa vaividhyaalu kaaranamavutaayi. itara rakalu arudainavigaa ledhaa oke vamsapaaramparyaaniki pratyaekamainavigaa pariganinchabadataayi. maanavuni online mendelian vaarasatvam 1000 kii paiga janyuvulu mariyu vaati anubandha yugmavikalpala vaividhyaala rikaardunu kaligi undhi. eee janyuvulu vaati sthaanam vadda yugmavikalpa vaividhyaanni pradarsistaayi mariyu vibhina vyaadhi samalakshanhaalaku baadhyata vahistaayi. eee vyaadhulalo konni alcaptonuria, albinism, acondroplasia mariyu phenylketonuria. udaaharanaku, β-globin janyuvulo aneka vibhina utparivartanala valla β-talassemia sambhavinchavachhu. allelic bhinnatvaanni locus bhinnatvamtho ayomayam cheyakudadu, dheenilo vaerae janyuvu vadda mutation idhe vidhamaina samalakshanaanni kaligistundi. adhe janyuvulo utparivartana vaerae samalakshanaaniki kaaranamayye samalakshana vaividhyamtho dheenini gandaragolaparachakudadu. allelic bhinnatvaanni pradarsinche itara pradhana vyaadhulu dystrophine janyuvulo allelic utparivartanalu, ivi duchen dystrophyki kaaranamavutaayi mariyu systic fibrosisku kaaranamayye sii. eff. tii. aarr janyuvulo utparivartanalu kaligistaayi.
alcaptonuria.
hechjidi nucleotide kramam kosam maanava janyuvu aneka aku-kaaranamayye yugmavikalpa utparivartanaalanu chooputundi. sumaru 40 ververu yugmavikalpa vaividhyaalu namodu cheyabaddaayi. eee vaividhyaalalo chaalaa varaku enjaim utprerakam paniteerupai prabhavam chuupavu. telisina konni yugmavikalpalu protein paniteerupai paroksha prabhavanni chuuputaayi, ivi porapaatuna madata pettadam mariyu enjaim complexes yokka saraina assembleaki antaraayam kaligistaayi. maanava samalakshanamlo oke rakanni choopinche allelic bhinnatvaaniki alcaptunoria oka classic udaaharanagaa pariganinchabadutundi.

