Scientific approach
Nekutaura kutaura, hakuna mubereki ari inshumo pamusoro pengozi iyi. Mumwe nemumwe wedu anotakura mavhareji gumi nemaviri asina kukwana, ayo atakagamuchira kubva kuhama dzedu uye, zvichida, tichapa vana vedu. Nhasi, sainzi inoziva zvirwere zvinokwana 5000, izvo zvinowanzokonzerwa nekuda kwezvinetso mumakemikari evanhu - mune majini kana ma chromosomes.
Izvo zvakakamurwa kuva mapoka matatu makuru: monogenic, polygenic uye chromosomal.
Nhasi inenge inenge hupi hupi hwehutano hunogona kutsanangurwa kubva pakuona kweti genetics. Kurwara kwechirwere chetachiona - chiremera chinokonzerwa nehutachiona, cholelithiasis - chirwere chinokonzerwa nemagetsi.
Aina dzezvirwere
Zvirwere zveMonogenic zvinokonzerwa nechirema chegene rimwe. Kwemazuva ano, dzinenge 1400 zvirwere zvakadai zvinozivikanwa. Kunyange zvazvo kupararira kwavo kwakaderera (5-10% yehuwandu hwezvirwere zvenhaka), hazviparadzi zvachose. Pakati pezvakanyanya kuRussia - cystic fibrosis, phenylketonuria, adrenogenital syndrome, g-lactosemia. Kuziva zvirwere izvi, vana vese vanozvarwa munyika yedu vanotarisana nemiedzo inokosha (zvinosuruvarisa, hapana nyika munyika inogona kutarisa vana kuti avepo nezvose zvinokonzerwa nemajeni). Kana kukanganisa kunowanikwa, mwana anotamirwa kune chikafu chakakosha, chinofanira kutarisirwa asati ava nemakore gumi nemaviri, uye dzimwe nguva kusvika makore gumi nemana. Kana vabereki vanorwara vakaberekwa vana vane utano, ipapo vana vose vekupedzisira vachave "vasina mhosva".
Zvirwere zvePolgen (kana kuti zvizhinji) zvinosanganiswa nekuputsa kwekubatana kwemajini mazhinji, pamwe nekuchengetedzwa kwezvakatipoteredza. Iri ndiro boka rakawanda kwazvo - rinosanganisira 90% yevanhu vose vane zvirwere zvekuzvarwa kwavo zvekudzivirira kwavo uye kurapa kunotevera.
Transmission paths
Kukurukurirana kukuru kwechirwere ndiamai vanorwara kana baba. Kana vose vari vaviri vanotambura nechirwere, njodzi inowedzera kazhinji. Zvisinei, kunyange iwe newawakaroorana naye mune utano, kune huwandu hwakaremara hwemajini mumuviri wenyu. Ivo vanongodzingwa nevakawanda uye "kunyarara." Muchiitiko chekuti iwe une gwechete rimwechete "rakanyarara" pamwe nemurume wako, vana vako vanogona kukura chirwere chekuzvarwa.
Nhaka yaro inowanikwa mune zvirwere "zvakabatanidzwa pabonde" - hemophilia, chirwere chaGünter. Dzinotungamirirwa nemajeni ari muchromosome yepabonde. Vabereki vemurwere vane mamwe marudzi eoncology, developmental anomalies (kusanganisira hare lip uye mhumhi muromo). Mune zvimwe zviitiko, vabereki havabvumiri chirwere chacho pachavo, asi chinotarisirwa nayo (chirwere cheshuga, chirwere chemoyo chinonzi doro). Vana vanogamuchira kusagadzikana kusanganiswa kwemajini, ayo mune mamwe mamiriro (kushungurudzika, kushungurudzika kwakakomba, kusagadzikana kwezvisikwa) zvinogona kutungamirira pakuvandudzwa kwechirwere. Uye zvakanyanya kufanirwa chirwere mumamai kana baba, inowedzera ngozi.
Chromosomal zvirwere zvoupenyu zvevanhu, kudzivirirwa uye kurapwa kunopiwa nguva yakawanda uye simba, dzinomuka nekuda kwekuchinja kwehuwandu uye sarudzo yekromosomes. Semuenzaniso, kunyanya kunonyanya kuzivikanwa - Down's disease - kunokonzerwa nekufamba kwema 2 chromosomes. Kuchinja kwakadaro hakusi nyore, kunowanikwa mumatanhatu emangwana. Zvimwe zvirwere zvinowanzova zvirwere zveSyndromes, Edwards, Patau. Zvose izvi zvinoratidzira maitiro akawanda: kunonoka pakukura mumuviri, kutadza mupfungwa, moyo mucheche, genitourinary, kutya uye mamwe maitiro asina kunaka. Kurapa kwekromosomal kusakanganiswa hakuchina kuwanikwa.
mwana wacho anogona kunge akave noutano hwakanaka, asi kana amai vacho vakatakura geni rinokanganisa, mukana wokubereka mukomana anorwara ndewe 5%. Vasikana vanoberekwa vane utano, asi hafu yavo, zvakare, inova vatakuri vechirwere chakaremara. Baba vanorwara havatauri chirwere kuvana vavo. Vanasikana vanogona kurwara chete kana amai vari mutakuri.
Kubva muGomba reEgipita
Farao Akhenaten uye vahosi Nefertiti vekare vakaratidzwa nechitarisiko chisina kujairika. Icho chinopera, hachisi kungoona zviratidzo zvevanyori. Maererano ne "unnaturally", "maziso", maziso mashomanana, maziso asina kuremara (ayo anonzi "spider mimwe"), chirwere chisina kusimbwa ("shiri chiso"), masayendisiti akacherechedza Minkowski-Shafar syndrome - imwe yenhaka yeanemia (anemia).
Kubva kuRussia History
Kurwiswa kweropa kuvhara (hemophilia) mumwanakomana wekupedzisira weRussia Tsar Nicholas II Tsarevich Alexei uyewo anowanzozvarwa. Ichi chirwere chinoparadzirwa kuburikidza nemwana wechizvarwa, asi chinoratidzwa chete muvakomana. Zvingangodaro kuti mutevedzeri wokutanga wehemophilia gene aiva Queen Victoria we Great Britain, mbuyakuru vaAlexei.
Matambudziko pakuziva
Zvirwere zvakashata hazvisi nguva dzose zvinoratidzika kubva pakuzvarwa. Mamwe maitiro ekudzora mupfungwa anoonekwa kana mwana atanga kutaura kana kuenda kuchikoro. Asi kudengenyeka kweGoettington (rudzi rwekusimudza kwepfungwa dzinopfuurira) rinowanzozivikanwa pashure pemakore.
Mukuwedzera, ma "jeni" anonyarara anogona kuva dambudziko. Basa ravo rinogona kuonekwa muhupenyu hwose - pasi pesimba rekunze kunze kwezvinhu (mararamiro asina kunaka, kutora mishonga yemishonga, mihizha, kusvibiswa kwezvakatipoteredza). Kana mwana wako akawira muchikwata chinotyisa, iwe unogona kupinda ma molecular genetic test izvo zvichabatsira kuziva kuti kune chirwere chechirwere munyaya imwe neimwe. Uyezve, imwe nyanzvi inogona kupa zvinodzivirira. Kana avo vanorwara maitiro ehukuru, hazvibviri kudzivisa chirwere chacho. Iwe unogona chete kugadzirisa zviratidzo zvechirwere. Zvichiri nani, edza kuvanyevera vasati vasununguka.
Risk boka
Kana iwe newawakaroorana naye mune chimwe chezvikonzero izvi, zviri nani kuti muwane mazano ekurapa mazano asati aita pamuviri.
1. Kuvapo kwezviitiko zvakasiyana-siyana zvehutano husingaperi pamiganhu miviri. Kunyange kana iwe uine utano hwakanaka, unogona kuva vatakuri vezvisikwa zvakashata.
2. Zera rinopfuura makore makumi matatu. Kwemakore, nhamba yekuchinja kwemuviri mumuviri iri kuunganidza. Ngozi yezvirwere zvakasiyana-siyana iri kukura exponentially. Saka, neArt's disease yevana vane makore gumi nematanhatu, iyo inenge 1: 1640, yemakore makumi matatu nemakore-1: 720, kwemakore makumi mana-makumi mashanu-atova 1:70.
3. Kuberekwa kwevana vakapfuura vane zvirwere zvakakomba.
4. Zviitiko zvinoverengeka zvekuenda pamuviri. Kakawanda, zvinokonzera kukanganisa kwemajini kana chromosomal kusakanganiswa mumwana.
5. Kugara kwenguva refu kwemishonga nemukadzi (anticonvulsant, antithyroid, antitumor drugs, corticosteroids).
6. Kutarisana nehupfu uye zvinhu zvinokonzerwa nehutachiona, uyewo kudhakwa uye kudhakwa kwezvinodhaka. Zvose izvi zvinogona kukonzera kushanduka kwemashoko.
Tinoonga kukura kwemishonga, ikozvino vabereki vose vane sarudzo - kuti varambe vachiita nhoroondo yemhuri yehutachiwana hwakakomba kana kuti kuvhiringidze.
Nzira dzekudzivirira
Kana iwe uri pangozi, unofanirwa kuenda kuburikidza nekukurukurirana ne geneticist. Kubva pane zvakadzama pedigree nedzimwe nhepfenyuro, achasarudza kana kutya kwako kwakarurama. Kana chiremba anosimbisa dambudziko racho, iwe unofanirwa kuenda kuburikidza nekuongorora mazita edziini. Ichasarudza kana iwe uri kutakura zvikanganiso zvine ngozi.
Kana nengozi yekubereka mwana ane chirwere ichikwirira kwazvo, nyanzvi dzinopa mazano panzvimbo yekuberekwa kwepanyama kuti uende kune in vitro fertilization (IVF) ne preimplantation genetic diagnosis (PGD). PGD inobvumira imwe sero inotorwa kubva mumukomana kuti inzwisise kana yakagwinya kana ichirwara. Zvadaro, mazai ehutano chete anosarudzwa uye akaiswa mukati mechibereko. Mushure mokunge IVF, kubata pamuviri kune 40% (kupfuura imwe nzira inogona kudiwa). Izvo zvinofanira kurangarirwa kuti kuedza embryo kunoitwa kune chimwe chirwere (icho chinozivikanwa pachine ngozi yekuwedzera). Izvi hazvirevi kuti mwana akaberekwa pamugumo anovimbiswa kune dzimwe zvirwere, kusanganisira zvirwere zvekuzvarwa. PGD inzira yakaoma uye isingadhuri, asi inoshanda zvakanaka nemaoko ane unyanzvi.
Panguva yekuzvitakura, zvakakosha kushanyira shanduro dzose dzakagadzirirwa uye kupa ropa ku "kuongorora katatu" (kuongorora dambudziko rekukura kwehutano). Nechinjodzi chechiromosomal mutations, chorionic biopsy inogona kuitwa. Kunyange zvazvo kune dambudziko rekubvisa pamuviri, kushandiswa uku kunoita kuti zvive nyore kugona kuvapo kwechromosomal kusagadzikana. Kana vakawanikwa, pamuviri unorayirwa kuti udzivirirwe.