Zvirwere Genetic vari nhaka. Medical uye nemagene vachindiedza

Kubva vabereki mwana anogona kuwana kwete chete imwe ziso ruvara, kureba kana pezvakaita chiso, asi masero nezvirwere zviri nhaka. Ndezvipi? Ndingabatsira kuvawana? Chii kupatsanura pakati nhaka zvirwere zviripo?

The zvigadziriswe yedzinza

Asati kutaura chirwere, zvinokosha kunzwisisa nhaka chii magene. All ruzivo pamusoro pedu iri mubhuku morekuru reDNA randinogara ane unimaginably refu namaketani amino acids. The alternation pamusoro amino acids izvi akasiyana.

DNA beach zvimedu vanonzi magene. Mumwe jini munhu RUBATSIRO RUNOTARISA ruzivo pamusoro mumwe kana kupfuura zviratidzo muviri, izvo chakasvitswa kubva vabereki vana, zvakadai ganda ruvara, bvudzi, unhu unhu, uye zvichingodaro. D. Kana vari zvakakuvadza kana kukanganisa basa ravo kuonekwa kuvabereki chirwere, pachishandiswa nhaka.

DNA rinorongwa mu okutodza 46 kana 23 majoko, rimwe riri dzepabonde. Okutodza vane basa Gene basa, kukopa, uye kupora pakukuvara. Somugumisiro pakusangana mu peya imwe pane imwe chromosome kubva baba uye mumwe kubva mai.

Pakazoti mumwe majini kwaizova hune uye rimwe recessive kana kukurirwa. Simplistically, kana Gene kwababa neziso ruvara, zvingava hune, mwana nhaka unhu ichi kubva kwaari, kwete kubva mai.

nemagene zvirwere

Nhaka zvirwere kuitika apo mashandiro ose okuchengetera uye kupararira magene mashoko kutyorwa kuitika, kana mutation. Nhengo ane Gene wakaremara, achapfuura nayo kuvana vavo zvakafanana sezvo utano zvinhu.

In Kana apo zvemamiriro jini recessive, zvirege kuonekwa mune runotevera, asi ivo vari ayo vatakuri. Mukana kuti ringareva Gene havazobvumirwi kuratidzwa kuvapo, kana zviratidzo utano vaizovawo zvakazara.

Zvinonzi ikozvino kuzivikanwa anopfuura 6000 nemagene zvirwere. Vazhinji vavo pashure age 35, uye vamwe pangasava kududzira pacharo muridzi. Tiine zvikuru yakakwirira kakawanda akaratidza cheshuga mellitus, kufutisa, psoriasis, cheAlzheimer, schizophrenia uye zvimwe zvirwere.

kupatsanura

Nemagene zvirwere, nhaka, vane kuwanda mhando. Kugovera muvira mapoka anogona kunzi kutyorwa nzvimbo, hunokonzera, chiremba mufananidzo, hunhu yedzinza.

Zvirwere zvinogona Classified maererano mhando nhaka uye nzvimbo chakaremara Gene. Saka, zvinokosha Gene yaiva imwe pabonde kana asiri kurara chromosome (autosome), uye kunokukura kana kwete. Govera chirwere:

• Autosomal rave - brachydactyly, arachnodactyly, ectopia pamusoro izvo.
• Autosomal recessive - albinism, tsandanyama dystonia dystrophy.
• Limited pauriri (pane chete vakadzi kana varume) - hemophilia A uye B, ruvara upofu, muviri, phosphate cheshuga.

Quantitative uye Qualitative kupatsanura pakati enhaka zvirwere pachena kuvabereki, chromosomal uye mitochondrial mhando. Zvapedzisira zvinoreva DNA ari mitochondria zvirwere kunze tsanga. maviri okutanga munguva DNA, riri muchitokisi musimboti, uye vane subspecies akawanda:

zvinokonzera

Our majini vanowanzotevedzera kwete chete chitoro ruzivo, asi vo zvakachinja, kuwana zvitsva zvaari. Uyu mutation. Zvinoitika kashoma, vanenge 1 nguva yokudengenyeka mamiriyoni nyaya uye chakasvitswa vazukuru, kana kwakaitika utachiona mumasero. For chete Gene mutation maitikiro 1: 108.

Kunotouraya ndivo dzinongoitika kwacho uye zvinoumba hwaro shanduka variability zvose zvipenyu. Vanogona kubatsira uye kunokuvadza. Vamwe kutibatsira kuti zvirinani ajairane zvakatipoteredza uye nemararamiro (somuenzaniso, anodzivisa napagumwe roruoko), vamwe kutungamirira chirwere.

The panowanikwa abnormalities mu Gene ukurumidze muviri, zvemakemikari uye zvipenyu mutagenic zvinhu. pfuma iyi makagarwa zvimwe alkaloids, nitrates, nitrites, zvokudya yokuvirisa, mishonga yokuuraya zvipembenene, zvokufembedzwa uye zvinogadzirwa mafuta.

Pakati zvinooneka zvinoongororwa ionizing uye radioactive nemwaranzi, ultraviolet mwaranzi, zvakanyanya yakakwirira uye yakaderera tembiricha. Sezvo zvoutachiona zvikonzero ndivo utachiona rubella, gwirikwiti maantigen, uye zvichingodaro. D.

nemagene kubatwa

Vabereki kutikanganisa kwete chete kuti dzidzo. Zvinozivikanwa kuti vamwe vanhu vane zvikuru mukana panowanikwa vamwe zvirwere kupfuura vamwe nemhaka yedzinza. Genetic kubatwa nechirwere kunoitika apo mumwe kubva mhuri kutyora zviri majini.

Mukana imwe chirwere ari mwana zvinoenderana wake pabonde, nokuti zvimwe zvirwere zviri zvitange chete rwonzi. It inobvawo pane rwevanhu uye pamusoro dhigirii ukama murwere.

Kana munhu anozvarwa aine mutation mwana, ane mukana wokugara nhaka chirwere ipapo 50%. Gene anogona zvakanaka kwete unooneka nenzira ipi zvayo, ari recessive, sezvo iri nyaya yokuroorana nomunhu ane utano hwakanaka, mukana ake kupfuura vazukuru vanoumba pamusoro 25%. Zvisinei, kana mumwe kuchaitawo vakabata recessive Gene yakadaro, mikana zvinozonzi yaro vazukuru kuwedzera zvakare 50%.

How kuziva chirwere?

Nguva kuziva zvirwere kana kubatwa kubatsira genetics Center. Kazhinji, rwakadaro mumaguta ose makuru. Asati chero Kuongorora zano chiremba wako kuti uzive kuti zvoutano zviri kuchengetwa nehama.

Medical uye majini Ongororo iri kuitwa nokutora ropa waungapa. Mharidzo iri vainyatsoongorora murabhoritari chero abnormalities. Vabereki vanotarisira kazhinji kupinda yokubvunza dzakadaro pashure pamuviri. Zvisinei, majini centre vauye uye panguva nokuronga kwayo.

Nhaka zvirwere kukanganisa pfungwa uye utano mwana, kukanganisa upenyu anotarisirwa. Vazhinji vavo zvakaoma kurapa, uye vanoratidza yavo kugadziridzwa chete zvokurapa nzira. Naizvozvo, kugadzirira nani mwana akadaro pamberi pamuviri.

Down kuti urwere

Chimwe chezvinhu zvakafanana nemagene zvirwere - Down syndrome. It kunoitika muna 13 nyaya kubva 10000. Iyi anomaly, umo munhu 46, uye 47 okutodza. Rokuongorora kuti chirwere unogona kuva pakarepo pavaizvarwa.

Pakati huru zviratidzo zvechirwere flattened chiso, akamutsa makona kwameso, pfupi mutsipa uye kushayikwa tsandanyama matauriro. Kazhinji dziri duku incision oblique maziso, mugari Maumbirwe dehenya.

Varwere vana vane comorbid zvirwere uye zvirwere - nemabayo, SARS, etc. Unogona kuona exacerbations, akadai atadze kunzwa, kuona, hypothyroidism, mwoyo chirwere ... Kana daunizm kukura mupfungwa iri seiyi uye kazhinji inogara iri pamwero makore manomwe.

Constant basa, rinokosha muviri uye gadziriro kuvandudza zvikuru zvinhu. Kune vakawanda vanhu vane yakafanana chirwere kunogona kuti vararame vakazvimirira, kuwana mabasa uye vane kubudirira nyanzvi kubudirira.

hemophilia

A chisingawanzowaniki nhaka chirwere chinobata vanhu. It kunoitika kamwe muna 10,000 zviitiko. Hemophilia haina kurapwa uye unovapo kubva nokuchinja rimwe Gene zvounzenza X chromosome. Vakadzi ndivo chete vatakuri chirwere.

The chikuru unhu ndiyo kushaya mapuroteni, riri basa kweropa. Muchiitiko chino, kunyange pachiitiko chinotyisa kuduku chinokonzera ropa usingabereki chete kurega. Dzimwe chinoratidza pachayo chete pazuva mushure zvinokuvadza.

British Koroleva Viktoriya aiva mutakuri hemophilia. Akabudirira chirwere kune zvizvarwa zvake zvakawanda, kusanganisira Tsarevich Alexei - mwanakomana chevaux Nicholas II. Nokuda chirwere wake akasvika pakunzi "youmambo" kana "Victorian".

Angelman urwere

The chirwere unowanzonzi "chirwere hunofadza mudhori" kana "chirwere Petrushka", sezvo varwere vane kakawanda pandinotsamwirwa kuseka uye kunyemwerera, runobva fambisa maoko. Kana anomaly ichi kunoratidzwa hope kuvhiringidza uye kukura mupfungwa.

Syndrome kunoitika kamwe pa 10 000 nyaya nokuda kwokushaya majini dzinoverengeka refu ruoko chromosome 15. Angelman chirwere hwapedyo chete kana pasina majini ari chromosome nhaka mai vake. Kana chete majini hatisi ari yemadzibaba chromosome, pane Prader-Willi syndrome.

The chirwere hahugoni kurapwa zvakakwana, asi kungarerutsira zviratidzo. Kuti aite izvi, yaiitisa mumuviri kurapwa uye kukwizwa. Fully kuzvimiririra, varwere havawani, asi mishonga anogona kuzvitarisira.