
janithaka vaikalyam

janithaka vaikalyam ennathu genome onno athiladhikamo asaadhaaranathakal moolamundaakunna aarogya prasnamaanu. orotta jeenile (monogenic) allengil onniladhikam jeenukalile (pologenic) allengil chromosomal asaadhaaranatha moolamo ithu sambhavikkam. polysenic disordezhs ettavum saadhaaranamaanenkilum, oru jeenilo chromosomilo orotta janithaka kaaranamulla disordezhs charcha cheiyumbozhaanu eee padam kooduthalum upayogikkunnathu. bhroona vikasanathinu munbu (oru "dii novo" mutation) utharavaadiyaaya mutation swamedhayaa sambhavikkam, allengil thettaaya jeeninte (autosomal resussive anantharaavakaasham) vaahakaraaya rund maathaapithaakkalil ninno allengil desorder ulla oru rakshakarthaavil ninno (autosomal domainment anantharaavakaasham) ithu paarambaryamaayi labhikkam. janithaka vaikalyam maathaapithaakkalil onno rando peril ninnu paarambaryamaayi labhikkumbol, athine paarambarya rogamaayum tharamthirikkunnu. chila vaikalyangal x chromosomile oru mutation moolamaanu undaakunnath koodaathe x-linked anantharaavakaashavumundu. vaii chromosomilo mitocondrial dnailo (avayude valuppam kaaranam) valare kurachu vaikalyangal maathrame paarambaryamaayi labhikkoo.
ariyappedunna 6,000-ladhikam janithaka vaikalyangalund, koodaathe puthiya janithaka vaikalyangal medical saahithyathil nirantharam vivarikkappedunnu. 600-ladhikam janithaka vaikalyangal chikilsikkaavunnavayaanu. 50 peril oraalkk ariyappedunna single-jeane desorder badhikkunnu, athesamayam 263 peril oraalkk chromosomal desorder badhikkunnu. ekadesham 65 sathamaanam aalukalkkum janmana janithaka vyathiyaanangalude falamaayi eathenkilum tharatthilulla aarogyaprasnangalundu. ganyamaaya valia ennam janithaka vaikalyangal kaaranam, ekadesham 21 peril oraale "apoorva" ennu tharamthirickunna janithaka vaikalyam badhikkunnu (saadhaaranayaayi 2,000 peril oraalil thaazhe aalukale badhikkunnu ennu nirvachikkappedunnu). mikka janithaka vaikalyangalum apoorvamaanu.
janithaka vaikalyangal jananathinu munbe kaanapedunnu, chila janithaka vaikalyangal janana vaikalyangal srishtikkunnu, ennaal janana vaikalyangal paarambaryathekkaal vikasanaparavum aakam. paarambarya rogathinte vipareethamaanu nediyeduttha rogam. mikka arbudangalum shareerathile koshangalude oru cheria anupaathathilekku janithaka parivartthanangal ulkkollunnundengil avaa nediya rogangalaanu. ennirunnaalum, "bii. aarr. sii. eiii" mutationukal polulla chila cancer syndramukal paarambarya janithaka vaikalyangalaan.
eaka-jeane.
orotta janithaka takaraar (allengil monogenic desorder) orotta parivartthanam cheytha jeeninte falamaanu. single-jeane disordezhs pala tharatthil thudarnnulla thalamurakalilekku pakaraan kazhiyum. ennirunnaalum, genomic mudranam, yoonipaarantal dsomy enniva anantharaavakaasha paattenukale baadhichekkaam. autosomal, ex-linked tharangal thammilulla vibhajanagal (kaaranam randaamathethu jeeninte chromosomal sthaanathe adisthaanamaakkiyaanu verthirichariyunnathu) aanenkilum, resessive, doment tharangal thammilulla vibhajanagal "kadinavum vegathayeriyathum" allah. udaaharanathinu, kullan swabhaavathinte saadhaarana roopamaaya acondroplasia saadhaaranayaayi oru prabalamaaya rogamaayi kanakkaakkappedunnu, ennaal acondroplassiaykku rund jeenukalulla kuttikalkk kadinavum saadhaaranayaayi maarakavumaya asthikooda thakaraarund, ithu acondroplassine vaahakaraayi kanakkakkaam. sickle sell anaemia oru thirashcheena avasthayaayi kanakkaakkappedunnu, ennaal heterosaigas carrierukal kuttikkaalathu maleriyayodulla prathirodham vardhippichu, ithu oru anubandha prabalamaaya avasthayaayi visheshippikkaam. oru pankaaliyo allengil randupero baadhicha oru dambathikal allengil single-jeane disorderinte vaahakaraanu oru kutty aagrahikkumbol, avarkk "inn vitro" fertilisationiloode athu cheyyaan kazhiyum, ithu bhroonathinu janithaka thakaraarundo ennu parisodhikkaan pree implaanteshan janithaka roganirnayam nadatthaan prapthamaakkunnu.
janithaka villalukal ennariyappedunna mikka janithaka upapachayam vaikalyangalum single-jeane vaikalyangal moolamaanu undaakunnath. atharam niravadhi single-jeane vaikalyangal baadhitharude shaareerikakshamatha kuraykkum, athinaal lalithamaaya probabilistik kanakkukoottalukalude adisthaanathil prathekshikkunnathine apekshichu kuranja aavruthikalil janasamkhyayil iva kaanapedunnu.
autosomal aadhipathyam.
oru vyakthiye autosomal dominent desorder baadhikkunnathin jeeninte oru parivartthanam cheytha pakarpp maathrame aavashyamulloo. oro rogabadhitha vyakthikkum saadhaaranayaayi oru rogabadhithanaaya maathaapithaakkalundu. oru kuttikk parivartthanam cheyyappetta jeane paarambaryamaayi labhikkanulla saadhyatha 50 sathamaanamaanu. autosomal aadipathyamulla avasthakal chilappol nuzhanjukayattam kuraykkunnu, athaayath oru parivartthana pakarpp maathrame aavashyamulloovenkilum, aaa parivartthanam anantharaavakaashamaayi labhikkuna ellah vyakthikalum rogam vikasippikkunnilla. huntingtons rogam, neurophybromatosis type 1, neurophybromatosis type 2, marphan syndrome, paarambarya nonpoliposis vankudal cancer, paarambarya multiple exostosus (valare nuzhanjukayattamulla autosomal dominent desorder), tuberus sclerosis, voonn willebrand rogam, acute intermittant porphyria ennivayaanu itharathilulla rogangalude udaaharanagal. janana vaikalyangale janmana undaakunna vaikalyangal ennum vilikkunnu.
autosomal resussive.
oru vyakthiye autosomal resussive desorder baadhikkunnathin jeeninte rund pakarppukal parivartthanam cheyyanam. rogabadhithanaaya oraalkk saadhaaranayaayi baadhikkaatha maathaapithaakkalundu, avar oororutharum parivartthanam cheytha jeeninte orotta pakarpp vahikkunnu, avare janithaka vaahakarenn vilikkunnu. thakaraarulla jeane ulla oro rakshakarthaavinum saadhaaranayaayi lakshanagalilla. oro garbhakaalathum parivartthana jeeninte oru pakarpp vahikkunna rund rogabaadhitharallaatha aalukalkk eee takaraar baadhicha oru kutty undakanulla 25 sathamaanam apakadasaadhyathayund. albinism, meediyam-cheyin asail-qoo dehydrogenase kuravu, sistik fibrosis, sickle sell rogam, tay-sax rogam, neeman-pick rogam, sushumna muscular atrophy, roberts syndrome ennivayaanu itharathilulla thakaraarukalude udaaharanagal. nananjathum varandathumaaya iyarvaaks polulla mattu chila phenotypeukalum autosomal resussive reethiyil nirnnayikkappedunnu. chila autosomal resussive disordezhs saadhaaranamaanu, kaaranam munkaalangalil, thettaaya jeenukalilonnu vahikkunnath kshayarogam allengil malaria polulla pakarchavyaadhikalil ninno vishavasthukkalil ninno cheria samrakshanathilekku nayichu. atharam vaikalyangalil sistik fibrosis, sickle sell rogam, phenylkettoneriya, thalassemia enniva ulppedunnu.
ex-linked domainment.
ex-linked dominent disordezhs ex chromosomile jeenukalile mutationukal moolamaanu undaakunnath. ex-linked hypophosphatemic rikkattukal oru pradhana udaaharanamaaya eee anantharaavakaasha paatten ulla chila vaikalyangal maathrameyulloo. purushanmareyum sthreekaleyum eee vaikalyangal badhikkunnu, saadhaaranayaayi sthreekale apekshichu purushanmareyaanu kooduthal baadhikkunnath. rettu syndrome, incontentia pigmenti type 2, icardy syndrome thudangiya chila ex-linked aadhipathya avasthakal saadhaaranayaayi garbhaashayathilo jananathinu thottupinnaalo purushanmaaril maarakamaan, athinaal pradhaanamaayum sthreekalil kaanapedunnu. eee kandethalinu apavaadangal valare apoorvamaaya kesukalaanu, athil clinefelter syndrome (44 + xy) ulla aankuttikalkku ex-linked aadhipathya avastha paarambaryamaayi labikkukayum rogathinte theevrathayude kaaryatthil oru sthreeyude lakshanangalumayi kooduthal saamyamulla lakshanagal prakadippikkukayum cheiyunnu. oru ex-linked dominent desorder pakaraanulla saadhyatha purushanmaarum sthreekalum thammil vyathyaasappettirikkunnu. ex-linked domainment desorder ulla oru manushyante aanmakkale baadikkilla (avarkk avarude pithaavinte vaii chromosome labhikkunnathinaal), pakshe addehathinte penmakkalkkellam eee avastha anantharaavakaashamaayi labikkum. ex-linked domainment desorder ulla oru sthreek oro garbhakaalathum baadhicha garbhapindam undakanulla 50 sathamaanam saadhyathayund, ennirunnaalum incontinentia pigmenti polulla kesukalil, penn santhathikal maathrame saadhaaranayaayi saadhyamaakoo.
ex-linked resessive.
ex-linked resessive avasthakal x chromosomile jeenukalile mutationukal moolavum undaakunnu. eee avasthaykku aavashyamaaya oru x chromosome maathrame ulloo ennathinaal purushanmaare sthreekalekkaal kooduthal badhikkunnu. eee rogam pakaraanulla saadhyatha purushanmaarum sthreekalum thammil vyathyaasappettirikkunnu. ex-linked resussive desorder ulla oru manushyante aanmakkale baadikkilla (avarkk avarude pithaavinte vaii chromosome labhikkunnathinaal), ennaal addehathinte penmakkal parivartthanam cheytha jeeninte oru pakarppinte vaahakarayirikkum. ex-linked resussive desorder (exrxr) ulla oru sthreek baadhicha aanmakkal undakanulla 50 sathamaanam saadhyathayum parivartthanam cheytha jeeninte oru pakarppinte vaahakaraaya penmakkal undakanulla 50 sathamaanam saadhyathayum undu. haemophilia eiii, duchen muscular dystrophy, lesh-nihan syndrome thudangiya gurutharamaaya rogangalum purusha paatten kashandiyum chuvapp-pacha varnnaandhathayum polulla saadhaaranavum gurutharamallaathathumaaya avasthakalum ex-linked resussive avasthakalil ulppedunnu. vakramaaya ex-inctivation allengil monosomy ex (turner syndrome) kaaranam ex-linked resussive avasthakal chilappol sthreekalil prakadamaakum.
y-link cheythirikkunnu.
vaii-linked disordezhs vaii chromosomile mutationukal moolamaanu undaakunnath. eee avasthakal hetarogamettik laingikathayil ninnu maathrame pakaraan kazhiyoo (udha.jii. purushanmaar) ore lingathinte santhathikalkku. kooduthal lalithamaayi paranjaal, manushyaril vaii-linked disordezhs purushanmaaril ninnu avarude aanmakkalilekku maathrame pakaraan kazhiyoo ennaanu ithinartham; vaii-alosomukal illaathathinaal sthreekale orikkalum badhikkaan kazhiyilla.
vaii-linked disordezhs valare apoorvamaanu, ennaal ettavum ariyappedunna udaaharanagal saadhaaranayaayi vandhyathaykk kaaranamaakunnu. atharam saahacharyangalil vaidyasahaayathiloode vandhyathaye marikadakkunnathiloode maathrame prathyulppaadanam saadhyamaakoo.
mitocondrial.
maathru anantharaavakaasham ennum ariyappedunna itharathilulla anantharaavakaasham, mitocondrial dna encode cheytha 13 jeenukalkku baadhakamaan. vikasichukondirikkunna bhroonathinu mutta koshangal maathrame mitocondria sambhavana cheiyunnulloo ennathinaal, baadhicha ammamaarkk maathrame mitocondrial dna avasthakal avarude kuttikalkk kaimaran kazhiyoo. itharathilulla rogathinte oru udaaharanam lebarinte paarambarya opttik neuropathy aanu.
mitocondria kooduthalum vikasippikkunnath noonn-mitocondrial dna aayathinal mitocondrial rogangalil bhooribhaagavum (prathyekichu aadyakaala jeevithathil rogalakshanangal vikasikkumbol) yadhaarthathil oru nuclear jeane takaraar moolamaanennu oonnipparayendathu pradhaanamaan. eee rogangal mikkappozhum autosomal resussive anantharaavakaashathe pinthudarunnu.
multifactorial desorder.
janithaka vaikalyangal sankeernamo multifactoral allengil polysenic aakam, athaayath avaa jeevitashailiyum paaristhithika gadakangalumaayi samyojippichu onniladhikam jeenukalude falangalumaayi bandhappettirikkunnu. hrudrogavum pramehavum multifactoral disordezhsukalil ulppedunnu. sankeernamaaya vaikalyangal palappozhum kudumbangalil koottam koodunnundengilum avaykku paarambaryatthinte vyakthamaaya maathruka illa. ithu oru vyakthikk eee vaikalyangal paarambaryamaayi labhikkano kaimarano ulla saadhyatha nirnnayikkaan budhimuttaakkunnu. eee vaikalyangalil bhooribhaagathinum kaaranamakunna prathyeka gadakangal ithuvare thiricharinjittillaathillaathi sankeernamaaya vaikalyangal padikkaanum chikilsikkaanum prayaasamaan. sankeernamaaya vaikalyangalude kaaranam thirichariyaan lakshyamidunna padanangalkku genotype-phenotype associationukal nirnnayikkaan niravadhi reethishaasthraparamaaya sameepanagal upayogikkaam. oru reethi, genotype-phastt sameepanam, rogikalkkullile janithaka vakabhedangal thirichariyunnathiloodeyum thudarnnu anubandha klinikkal prakadanangal nirnnayikkunnathiloodey aarambikkunnu. ithu kooduthal parambaraagathamaaya phenotype-phastt sameepanathin virudhamaanu, koodaathe klinikkal vaividhyatha, nuzhanjukayattam, expressivity ennivayaal munbu avyakthamaaya kaaryakaarana gadakangal thirichariyaan kazhiyum.
oru vamshavaliyil, polysenic rogangal "kudumbangalil" pravartthikkunnu, pakshe anantharaavakaasham mendelian rogangaleppole lalithamaaya paattenukalkk anuyojyamalla. jeenukal oduvil kandethaanum padikkaanum kazhiyillennu ithinarthamilla. avayil palathinum sakthamaaya paaristhithika gadakavumundu (udha.jii.rakthasammardham). mattu gadakangalil iva ulppedunnu
chromosomal desorder.
chromosomal dnaude kaanathaaya, adhikamo kramarahithamo aaya bhagamaanu chromosomal desorder. ithu asaadhaaranamaaya ennam chromosomukalil ninno onno athiladhikamo chromosomukalile gadanaaparamaaya asaadhaaranathayil ninno aakam. eee vaikalyangalude oru udaaharanam trisomy 21 (daun syndrome) aanu, athil chromosome 21-nte oru adhika pakarpp undu.
roganirnayam.
ariyappedunna vaividhyamaarnna janithaka vaikalyangal kaaranam, roganirnayam vyaapakamaayi vaividyamaarnnathum eee vaikalyathe aasrayichullathumaanu. mikka janithaka vaikalyangalum jananathinu munbo jananasamayatho kuttikkaalattho kandethappedunnu, ennirunnaalum huntingtons rogam polulla chilath rogi praayapoorthiyaakunnathuvar kandethalil ninnu rakshappedaam.
janithaka vaikalyathinte adisthaana vashangal janithaka vasthukkalude anantharaavakaashathilaanu. aazhathilulla kudumbacharitramullathinaal, rogathe aashrayich medical professionalukale prathyeka parishodhanakalilekku nayikkukayum jeevithashailiyile maattangalkk thayyaaredukkaanum prasava saadhyatha munkootty kaananum allengil garbhachhidram pariganikkanum maathaapithaakkale anuvadikkunna kuttikalil saadhyamaaya vaikalyangal munkootty kaanaan kazhiyum. prasavapoorva roganirnayathinu altraasoundiloode garbhapindatthinte vikaasathile savisheshamaaya asaadhaaranathakalude saannidhyam kandethaano amniocentisis polulla garbhaashayathilekku probukaloo soochikalo cherkkunna aakramanathmaka nadapadikramangaliloode swabhaavasavisheshathakalude saannidhyam kandethaano kazhiyum.
pravachanam.
ellah janithaka vaikalyangalum maranathilekku nerittu nayikkunnilla; ennirunnaalum, janithaka vaikalyangalkk ariyappedunna pariharangalonnumilla. pala janithaka vaikalyangalum daun syndrome polulla vikasana ghattangale badhikkunnu, mattullava muscular dystrophy polulla poornnamaayum shaareerika lakshanangalkk kaaranamaakunnu. huntingtons rogam polulla mattu vaikalyangal praayapoorthiyaakunnathuvar lakshanangalonnum kanikkunnilla. janithaka thakaraarinte sajeevamaaya samayat, rogikal kooduthalum jeevithanilavaarathinte thakarcha nilanirthunnathino mandagathiyilaakkunnathino rogiyude svayambharanaavakaasham nilanirthunnathino aasrayikkunnu. ithil physical therapy vedana niyanthranavum ulppedunnu.
chikitsa.
janithaka vaikalyangalude chikitsa oru thudarchayaaya poraattamaanu, 1,800-ladhikam jeane therapy klinikkal pareekshanangal poortthiyaayi, nadannukondirikkunnu, allengil lokamembaadum amgeekarikkappettittundu. ennirunnaalum, mikka chikitsa oopshanukalum rogiyude jeevithanilavaram mechappeduthaanulla shramathil vaikalyangalude lakshanangale chikilsikkunnathine chuttippattiyaan.
oru rogikk aarogyakaramaya oru jeane avatharippikkunna oru tharatthilulla chikilsayaanu jeane therapy. ithu thettaaya jeane moolamundaakunna takaraar laghookarikkukayo rogathinte purogathi mandagathiyilaakkukayo cheyyum. eee takaraar baadhicha uchithamaaya koshatthilekkum koshatthilekkum avayavathilekkum jeenukal athikkuka ennathaayirunnu oru pradhana thadassam. thettaaya pakarpp vahikkunna trilyan kanakkinu koshangalilekku oru jeane engane avatharippikkaamenn gaveshakar anweshichu. ithinu utharam kandethunnathu janithaka thakaraarine manassilakkunnathinum janithaka thakaraarine thiruthunnathinum edayilulla oru thadassamaayi mariyirikkunnu.
epidemiology.
50 peril oraalkk ariyappedunna single-jeane desorder badhikkunnu, athesamayam 263 peril oraalkk chromosomal desorder badhikkunnu. ekadesham 65 sathamaanam aalukalkkum janmana janithaka vyathiyaanangalude falamaayi eathenkilum tharatthilulla aarogyaprasnangalundu. ganyamaaya valia ennam janithaka vaikalyangal kaaranam, ekadesham 21 peril oraale "apoorva" ennu tharamthirickunna janithaka vaikalyam badhikkunnu (saadhaaranayaayi 2,000 peril oraalil thaazhe aalukale badhikkunnu ennu nirvachikkappedunnu). mikka janithaka vaikalyangalum apoorvamaanu. ariyappedunna 6,000-ladhikam janithaka vaikalyangalund, koodaathe puthiya janithaka vaikalyangal medical saahithyathil nirantharam vivarikkappedunnu.
charithram.
oru hominidil ariyappedunna aadyakaala janithaka avastha "paranthropus roobastas" enna phoosil inathilaayirunnu, moonnilonnu vyakthikalum amalogenesis apoornnatha prakadippikkunnu.

