Gene, matupi athu, khromozomu: tanthauzo, kapangidwe, ntchito

"Gene", "jini", "khromozomu" - mawu bwino kuti aliyense schoolchild. Koma lingaliro la nkhaniyi mwachilungamo zowombetsa mkota monga kuzamitsa m'nkhalango amuzolengedwa amafuna kudziwa wapadera ndi chikhumbo chofuna kumvetsetsa zonse. Ndipo icho chiri, ngati alipo pa mlingo wa chidwi, izo Mwamsanga msanga tizivutika ndi ulaliki. Tiyeni tiyese kumvetsetsa ndi ndondomeko ya mauthenga majini mu sayansi ndi kumalo ozizira mawonekedwe.

Kodi losokonekera?

Gene - ndi tinthu zing'onozing'ono structural ndi zinchito mudziwe cha chibadwa ku zamoyo zina. Kwenikweni ndi chidutswa ka DNA, imene muli kudziwa za yeniyeni ndondomeko kwa amino asidi kumanga mapuloteni kapena zinchito RNA (amene adzamva apanga mapuloteni). Jini Mzimuyo makhalidwe amene anatengera anapatsira ana a unyolo mibadwo. Ena zamoyo zokhala ndi selo imodzi, pali jini kutengerapo, amene si zokhudzana ndi kubereka za mtundu wawo, umatchedwa yopingasa.

"Pa mapewa" imene imachititsa ndi udindo waukulu pa mmene adzayang'ana ndi ntchito iri yonse yochepetsetsa ndi chamoyo wonse. Iwo kulamulira miyoyo yathu kuchokera pamene lingaliro mpweya wanga wotsiriza.

Gawo loyamba sayansi patsogolo mu phunziro cha chibadwa anapangidwa ndi Austria mmonke Gregor Mendel, amene 1866 lofalitsidwa kuzipenya wake pa zotsatira mu ulendo wa nandolo. Cholowa chuma, imene anagwiritsa ntchito zimasonyeza zizindikiro za dongosolo HIV, monga mtundu ndi mawonekedwe a nandolo ndi maluwa. mmonke Izi anakonza malamulo amene anapanga chiyambi cha chibadwa sayansi. Cholowa cha chibadwa ndi chifukwa makolo mwana wawo theka DNA ake. Choncho, zizindikiro za mayi ndi bambo, kuphatikiza kupanga osakaniza latsopano mbali kale. Mwamwayi, njira zambiri kuposa anthu amoyo pa dziko, ndipo n'zosatheka kupeza awiri okhalapo mwamtheradi zofanana.

Mendel anasonyeza kuti chibadwa si wosanganiza ndi zimafalitsidwa mu mawonekedwe a apawokha (osiyana) mayunitsi makolo mbewu. mayunitsi amaoneka mu toyesa awiriawiri (alleles) kukhalabe apawokha ndi kuwapereka kwa zikumuyendera mibadwo mu gametes amuna ndi akazi, omwe muli unit wa gulu lirilonse. Mu 1909, ndi Chidanishi katswiri Johannsen otchedwa mayunitsi wa chibadwa. Mu 1912, ndi zachibadwa ku United States of America, Morgan anasonyeza kuti ali mu DNA lapansi.

Kuyambira pamenepo anatenga kuposa zaka theka, ndipo maphunziro patsogolo patsogolo kuposa Mendel nawo akanakhala. Pa nthawi, asayansi akhazikika pa maganizo mfundo kusungidwa chibadwa, Mzimuyo kukula, chitukuko ndi ntchito zamoyo. Ndipo mwina ngakhale imfa.

Gawo

Kapangidwe jini lili si nkhani chabe za mapuloteni, komanso amasonyeza pamene ndi mmene kuwerenga, ndi ziwembu kanthu koyenera kugawana nkhani zonsezo osiyana ndi kusiya kaphatikizidwe wa mamolekyulu zambiri.

Pali mitundu iwiri ya chibadwa:

1. Kandalama - iwo ali ndi mfundo za kapangidwe ka mapuloteni kapena unyolo RNA. The nyukiliotayidi ndondomeko limafanana kwa amino zidulo.
2. majini zinchito udindo kapangidwe olondola a otsala mbali DNA ya ndondomeko synchronism, ndiponso kuwerenga.

Pakali pano, asayansi amatha muyankhe funso ili: angati majini mu khromozomu chiyani? Yankho inadzera inu: biliyoni atatu awiriawiri. Ndipo ichi ndi chimodzi mwa makumi awiri ndi zitatu zokha. Matupi athu ali wamng'ono structural wagawo, koma akhoza kusintha moyo wa munthu.

masinthidwe

Mwangozi kapena mwadala kusintha mbali nyukiliotayidi mu DNA timafupa, wotchedwa kusintha. Iwo sangathe bwanji kapangidwe ka mapuloteni, ndipo mukhoza kaŵerengedwe katundu wake. Choncho, kodi zotsatira m'dera ndi lonse la moyo woterewu.

Paokha, ndi masinthidwe kungakhale tizilombo, kuti umasokoneza monga matenda kapena woopsa, osalola thupi kukhalanso mu mkhalidwe yotheka. Koma ambiri a kusintha chimaonekera kwa umunthu. Deletions ndi duplications mowirikiza anachita mwa DNA, koma sikungawononge moyo wa munthu aliyense.

Kufufutidwa - kutaya dera khromozomu kuti lili ndi mfundo zina. Nthawi zina kusintha zingatipindulitse thupi. Iwo kumuthandiza kuteteza ndi olusa kunja, monga kamene kamawononga chitetezo m'thupi ndi mabakiteriya mliri.

Mwendo - ndi anawaonjezera kuwirikiza kawiri wa dera khromozomu, motero ya majini amene muli, nawonso kawiri. Chifukwa cha kubwerezabwereza mauthenga, izo umamumvera zochepa kuswana, ndipo kotero kudziunjikira masinthidwe ndi kusintha thupi mofulumira.

katundu jini

Munthu aliyense ali chachikulu DNA. Chibadwa - ndi zinchito wagawo mwa matabwa ake. Koma ngakhale malo awa chochepa wawo wapadera katundu amene amalola kusunga mtendere wa zamoyo:

1. Aziwakonda - luso kusakaniza chibadwa.
2. Bata - kuteteza dongosolo ndi katundu.
3. Lability - luso kusintha mchikakamizo cha mavuto atengere sizili.
4. Angapo allelism - kuli mkati mwa DNA imene imachititsa amene kabisidwe mapuloteni yomweyo dongosolo losiyana.
5. Allelic - pali mitundu iwiri ya jini wina.
6. Kulunjika - chizindikiro chimodzi = jini munthu wobadwa nawo.
7. Pleiotropy - multiplicity wa zotsatira za mbewu imodzi.
8. Expressivity - kusalekerera umboni umene ndiyotengera ndi mbewu ya.
9. Penetrance - pafupipafupi wa genotype mu mbewu ya.
10. Amveke - zosayembekezereka ya chidwi jini buku chiwerengero mu DNA.

jinomu

Matupi a anthu - ndiye cholowa chuma, umene uli mu khungu limodzi la munthu. Kuti chikupatsani chitsogozo pomanga thupi, ziwalo, kusintha thupi. The tanthauzo chachiwiri akuti amasonyeza Kapangidwe ka mfundo, osati ntchito yake. Matupi a anthu - chopereka chuma majini ankanyamula mu akonzedwa haploid DNA (23 awiriawiri) ndi zokhudzana ndi mtundu wapadera.

Chifukwa cha matupi athu ndi molekyulu asidi deoxyribonucleic zimadziwika bwino monga DNA. genomes zonse muli mitundu osachepera awiri a mderali: chidziŵitso chokhudza pa kapangidwe ka tinthu m'khalapakati (otchedwa RNA) ndi mapuloteni (zambiri uli majini), komanso malangizo amene amaonetsera nthawi ndi malo kuwonetsera zambiri mu chitukuko cha chamoyo. Chibadwa okha zatenga mbali yaing'ono ya matupi athu, koma ndi maziko ake. nkhani zolembedwa chibadwa - mtundu wa Chiongoko cha kupanga mapulotini, maziko zidutswa za thupi lathu.

Komabe, kwa mapangidwe kwathunthu kwa matupi athu ndi insufficiently kuwonjezekeredwa mmenemo zokhudza kapangidwe ka zonsezo. Muyenera kudziwa zambiri za miyambo ya zida za chibadwa, amene kutenga mbali mu ntchito za chibadwa malangizo akuti awo pamisinkhu yosiyanasiyana chitukuko ndi munyengo zosiyanasiyana moyo.

Koma ngakhale izi sikokwanira kwa mtima wathunthu wa matupi athu ndi. Chifukwa mwa iwo pali zinthu zimene zimachititsa ake kudziletsa kubalana (kugawanika), yaying'ono phukusi DNA mu phata, ngakhalenso zina zachirendo koma m'madera limatchedwa "odzikonda" (kutanthauza kuti ngati kokha kwa ogwira ntchito okha). Pazifukwa izi, pa nthawi pankhani matupi athu, kawirikawiri mumtima kuchotsedwa mbali ya DNA taonera DNA ya mtima khungu la mtundu winawake wa zamoyo, kuphatikizapo kumene, ndi majini.

Kukula ndi kapangidwe ka matupi athu ndi

M'pake kuganiza kuti mbewu, mbewu, khromozomu ndi osiyana mu oimira osiyana a moyo padziko lapansi. Iwo akhoza kukhala wamphamvu yaing'ono ndi yaikulu kwambiri ndipo muli mabiliyoni awiriawiri chibadwa. Kapangidwe ka mbewu lidzayeretsedwa zimadalira oli- amene matupi athu.

Ndi chiŵerengero pakati pa kukula kwa matupi athu ndi chiwerengero cha chibadwa chake membala wa makalasi awiri akhoza kuwasiyanitsa:

1. Yaying'ono genomes kuti si zapansi oposa khumi. Ali ndi ya chibadwa kwambiri chilamulira chikhalidwe ndi kukula. Khalidwe ambiri mavairasi ndi prokaryotes.
2. Yaikulu genomes zigwirizana oposa 100 miliyoni m'munsi awiriawiri, opanda ubale kutalika ndi chiwerengero cha chibadwa. More zofala eukaryotes. Ambiri mwa mindandanda nyukiliotayidi mu kalasi musati encode mapuloteni kapena RNA.

Kafukufuku akusonyeza kuti pali za 28,000 majini mu matupi a anthu. Iwo omangidwa anagawira kudutsa DNA, koma phindu la mbali adakali chinsinsi chachikulu kwa asayansi.

khromozomu

DNA - pali njira ma CD zakuthupi chibadwa. Zikupezeka phata la maselo eukaryotic, ndipo aliyense imakhala umodzi wautali kwambiri DNA. Iwo imaonekera mu maso kuwala mu ndondomeko fission. Karyotype amatchedwa lonse DNA, amene ali enieni mtundu uliwonse. zinthu Kuvomerezedwa kwa iwo ndi centromere, telomere ndi kugawanika mfundo.

Kusintha DNA pa magawano selo

Gene, matupi athu, khromozomu - ndi siriyo deta kufala mayunitsi dera aliyense zikuphatikizapo yapita zotsatirazi. Koma iwo zimasintha zina mu moyo wa khungu. Mwachitsanzo, mu interphase (pakati pa magulu) mu DNA phata imakonzedwa mwachisawawa, kutenga malo kwambiri.

Pamene selo amakonzekera mitosis (m. E. Kuti njira kupatukana awiri), pa chromatin kumaundanitsa ndi wokhota mu DNA, ndipo tsopano zionekera mu maso kuwala. Mu metaphase DNA amafanana ndodo oyenerera pafupi wina ndi mnzake ndi olumikizidwa kwa constriction yaikulu kapena centromere. Ndi udindo mapangidwe a spindle mitotic, gulu DNA munzere. Malinga ndi malo centromere wa kuli gulu la DNA:

1. Acrocentric - mu nkhani iyi, centromere ndi ili kosiyana ndi kulemekeza malo a khromozomu lapansi.
2. Submetacentric pamene mapewa (kutanthauza malo amene pambuyo pa centromere) kutalika wosiyana.
3. Metacentric ngati centromere ukugawa khromozomu ndendende pakati.

Gawo ili DNA anali akufuna mu 1912 ndipo ntchito ndi akatswiri mpaka lero.

khromozomu anomalies

Mofanana ndi zinthu zina morphological wa zamoyo, tokwanira komanso zingachitike kusintha structural zimene zimakhudza ntchito zawo:

1. Aneuploidy. Izi kusintha mu chiwerengero DNA karyotype ndi kuwonjezera kapena kuchotsa mmodzi wa iwo. Zotsatira za masinthidwe amenewa woopsa kwa mwana wosabadwayo wosabadwayo, komanso kupunduka kubadwa.
2. Polyploidy. Timakusonyeza monga kuwonjezera chiwerengero DNA, angapo theka chiwerengero chawo. Nthawi zambiri amapezeka mu zomera, monga ndere ndi bowa.
3. Chromosomal aberrations, kapena kukonzanso, - kusintha kapangidwe ka khromozomu ndi mchikakamizo cha zinthu zachilengedwe.

chibadwa

Chibadwa - sayansi kuti amaphunzira malamulo cha chibadwa ndi kusintha, komanso kuonetsetsa njira anabadwira. Mosiyana ndi zina zambiri sayansi kwachilengedwenso izo kuchokera pa chiyambi wake, kufuna kukhala sayansi yeniyeni. Mbiri yonse ya chibadwa - ndi nkhani ya chilengedwe komanso kugwiritsa ntchito njira ndi olondola ndi njira. Mfundo ndi njira chibadwa mbali yofunika kwambiri mu mankhwala, ulimi, kukonza majini, makampani tizilombo tosaoneka ndi maso.

Chibadwa - luso thupi kupereka pa nkhani intergenerational kupitiriza kwa morphological, amuzolengedwa ndi thupi makhalidwe ndi maonekedwe. Mu ndondomeko ya cholowa ankaimba akuluakulu mitundu pokha, gulu (mafuko, anthu) ndi makhalidwe banja la kapangidwe ndi kugwira ntchito zamoyo ndi ontogeny awo (chitukuko payekha). Sikuti tinatengera ena structural ndi zinchito makhalidwe a thupi (nkhope, ena mbali ya njira kagayidwe kachakudya, khalidwe neri Al.), Komanso mbali physicochemical ya kapangidwe ndi ntchito selo yaikulu ya biopolymers. Masiyanidwe - zizindikiro zosiyanasiyana mwa mitundu ina, komanso chuma cha ana a kugula osiyana mitundu makolo. Masiyanidwe ndi chibadwa ndi awiri limodzi katundu wa zamoyo.

syndrome pansi ndi

Pansi ndi matenda - matenda majini imene karyotype imakhala DNA 47 mu umunthu mmalo mwa mwachizolowezi 46. Umenewu ndi a aneuploidy, monga taonera pamwambapa. Mu awiri makumi awiri oyamba DNA pali owonjezera amene anawonjezera mfundo zowonjezera majini mu matupi a anthu.

Dzinali syndrome unatchedwa dokotala, Don Down, amene anatulukira ndipo analongosola mabuku monga mawonekedwe a matenda maganizo 1866. Koma maziko majini anatulukira pafupifupi zaka handiredi kenako.

EPIDEMIOLOGY

Pa mphindi, ndi karyotype 47 DNA anthu limapezeka kamodzi akhanda chikwi (poyamba Kafukufuku zinali zosiyana). Ichi chinapangidwira zikomo zotheka matenda oyambirira kudwala izi. matenda sadalira pa mpikisano, mtundu kapena mayi wa anapatsidwa chikhalidwe. Chotengeka ndi zaka. Mwayi wa kukhala ndi mwana ozerezeka ukuwonjezeka pambuyo zaka sate-faifi, ndipo pambuyo makumi chiwerengero cha ana athanzi odwala kale wofanana 20 1. zaka bambo zaka zoposa makumi Komanso kumawonjezera mwayi wokhala ndi mwana ndi aneuploidy.

Mawonekedwe a matenda Down

Ambiri zosinthika - zikamera wa khromozomu lowonjezera awiri twente-loyamba njira sanali cholowa. Ndi chifukwa chakuti pa angapo meiosis silimatsutsa pa nsoka spindle. peresenti asanu milandu anati mosaicism (khromozomu owonjezera lili si onse maselo a thupi). Pamodzi iwo amapanga nainte asanu chiwerengero cha anthu ndi chilema izi kobadwa nako. Peresenti yotsalayo asanu matendawa amayamba ndi cholowa trisomy khromozomu makumi awiri oyamba. Komabe, kubadwa kwa ana awiri ndi matenda mu banja limodzi kwangochepetsako pang'ono chabe.

chipatala

Munthu amene ali ndi matenda Down angadziŵike mwa mbali khalidwe kunja, apa ndi ena a iwo:

- flattened nkhope;
- Ndi adzafupikitsidwa chigaza (yopingasa gawo wamkulu kuposa kotenga);
- khungu khola pa khosi;
- khola la khungu okuta ngodya lamkati la diso;
- kwambiri sayenda zimfundo;
- utachepa minofu kamvekedwe;
- flattening kumbuyo kwa mutu;
- miyendo lalifupi ndi zala;
- chitukuko cha ng'ala ana akuluakulu kuposa zaka zisanu ndi zitatu;
- anomalies mano ndi m'kamwa;
- matenda obadwa nawo a mtima;
- pakhoza kukhala syndrome khunyu;
- khansa.

Koma bwino za matenda akutsatira mawonetseredwe kunja, ndithudi, zosatheka. Nkoyenera karyotyping.

Pomaliza

Gene, jini, khromozomu - zikuoneka kuti izo zangokhala mawu amene tanthauzo ife kumvetsa pamodzi ndi chosonyeza kwambiri. Koma kwenikweni kwambiri kusintha moyo wathu ndi kusinthako, ndipo timakakamizika kusintha. munthu amadziwa kusintha kuti, chiri chonse chimene iwo anali, ndipo ngakhale kwa anthu kuvutika majini pali nthawi ndi malo kumene iwo adzakhala irreplaceable.