Kufufuza kwa majini pang'onopang'ono kumakhala kuphunzira kotchuka. Mothandizidwa ndi kafukufuku wamakono awa, madokotala akhoza kukhazikitsa osati mlingo wokha wa ubale, komanso chiwerengero cha matenda ena. Tiyeni tikambirane mwatsatanetsatane kafukufuku, tidzakambirana za mitundu yake ndi zochitika.
Njira zowonongeka kwa majini
Kuyeza kwachibadwa - gulu lalikulu la maphunziro a labotale, kuyesera, kuwona ndi kuwerengera. Cholinga chachikulu cha zowonongekazi ndikutengera makhalidwe a chibadwidwe, kuphunzira zofunikira za majini. Malingana ndi cholinga cha izi kapena kusanthula, mitundu yotsatirayi ikusiyanitsidwa ndi ma genetic:
- kusanthula DNA dongosolo;
- kuwunika kwa chromosome;
- chibadwa;
- kafukufuku wokhudzana ndi matendawa.
DNA yofufuza
Kuchita phunziro ngati DNA kusanthula abambo kumathandiza kukhazikitsa kholo lachibadwa la mwanayo ndi kuchuluka. Chifukwa cha khalidwe lake, nkhaniyo imachotsedwa kwa mayi, mwanayo komanso bambo ake. Monga chinthu chofufuzira chingagwiritse ntchito phula, magazi. Kawirikawiri zimbudzi zimagwiritsidwa ntchito (kutenga zinthu kuchokera mkatikati mwa tsaya).
Mothandizidwa ndi chipangizo chapadera, pamene zamoyo zimayendera, zigawo zina za molekyumu ya DNA yomwe imanyamula chidziwitso cha majini - loci imawululidwa. Pakuwonjezeka kwambiri, labu imayesa zitsanzo zitatu panthawi imodzi. Poyambirira, ziwalo zomwe mwana adzalandire kuchokera kwa mayi ake zimakhala zosiyana siyana, ndipo zida zotsalirazo zikufanizidwa ndi zomwe zatchulidwa kuti bambo. Mwachindunji, kusanthula kwa chibadwa kumapangidwira paternity.
Kusanthula kwa Chromosomal
Kufufuza kwa matenda a chromosomal kumathandiza kukhazikitsa kukhalapo kwa matenda otheka mwa mwana wosabadwa. Kuti achite izi, madokotala amatha kuyang'anitsitsa asanakwatirane. Zimaphatikizapo zitsanzo zamagazi za kafukufuku ndi ultrasound. Kutanthauzira kwa zotsatira kumapangidwa ndi dokotala yekha. Pa nthawi yomweyi, chitsimikiziro chotsimikizirika sichinapangidwe chifukwa cha kuwonedwa kokha. Zotsatira zoipa ndizo zizindikiro zowonjezera. Kusiyanitsa pakati pa miyezo ya zikhalidwe kungakhale chizindikiro cha kukhalapo kwa zonyansa zoterezi monga:
- Down syndrome ;
- trisomy 13 ndi 18 chromosomes;
- Matenda a Turner;
- Matenda a Klinefelter.
Kuyezetsa magazi pogonana
Kufufuza kwa maumwini obadwa kumatsimikizira kuti akhoza kutenga mwana kuchokera kwa mnzanuyo. Mwachizolowezi, nthawi zambiri anthu ambiri okwatirana sangathe kukhala ndi ana kwa nthawi yaitali. Ponena za madokotala, pakati pa kafukufuku wofunikila - kafukufuku wokhudzana ndi majini. Zimayendetsedwa m'matope a zipatala zazikulu komanso malo opangira kulera.
Maselo a thupi la munthu ali pamwamba pa mapuloteni ena a HLA - munthu leukocyte antigen. Zinali zotheka kukhazikitsa mitundu yoposa 800 ya mapuloteniwa. Zomwe zimagwira ntchito m'thupi ndizozindikira nthawi yoyenera mavairasi, tizilombo toyambitsa matenda. Akadziŵa kuti pali mlendo, amatumiza chizindikiro ku chitetezo cha m'thupi, chomwe chimayamba kupanga ma immunoglobulins. Ngati njirayi ilibe ntchito, izi zimachitanso pa kamwana kamene kamapangika, komwe kumabweretsa mimba yokhazikika.
Pofuna kusalongosola chitukuko cha izi, madokotala amalimbikitsa kuti athandizidwe kuti azisintha. Mukayendetsedwa, mapuloteni omwe amachitira anzawo akuyesedwa, kufanana kwake kumafaniziridwa. Ndikoyenera kudziwa kuti kusagwirizana sikuti kumalepheretsa mimba. Pambuyo pa mimba, mayi amayamba kutengapo mbali, amachititsa kuti asatenge mimba, pamene ali ndi pakati pa chipatala.
Genetic analysis panthawi ya mimba
Kafukufuku wotere monga kusinthika kwa chiberekero cha mwana wakhanda amachititsa kuti azindikire matenda a chromosomal m'mayambiriro oyambirira a chitukuko cha mwana m'mimba mwa mayi. Kuphunzira koteroko kumatchedwa kuwonetsera. Kuwongolera kwake sikuphatikizapo kufufuza kwa mwanayo, komanso kuyesa mwana wam'tsogolo mothandizidwa ndi ultrasound. Kotero madokotala amatha kuzindikira zolakwira zomwe sizikugwirizana ndi moyo, zoipa. Phunziro lomweli limapangitsa kuthetsa zolakwika zapachibadwa, zimathandiza kukhazikitsa mwayi wa chitukuko, poyesa kuti m'magazi a mankhwala amagwiritsidwa ntchito monga:
- HCG ;
- AFP ;
- APP-A.
Kawirikawiri zizindikiro zoterezi madokotala amatha kugwiritsa ntchito, monga zizindikiro - ngati zikhalidwe zawo sizikugwirizana ndi miyezo yomwe yakhazikitsidwa, madokotala amapereka mayeso ena. Momwemo, njira zowonongeka zimagwiritsidwa ntchito. Ntchito yawo imagwirizanitsidwa ndi chiopsezo cha mavuto a mimba. Chifukwa chaichi, kusankhidwa kumachitika nthawi zambiri. Zomwe mwasanthulazi zikuphatikizapo:
- chiwerengero cha chorion - kufufuza za minofu ya particles ya mavulopu a kunja a embryo;
- sampuli ya magazi kuchokera mumtambo wa umbilical;
- kusanthula amniotic madzi.
Genetic analysis of susceptibility to diseases
Kufufuza kwa matenda a majeremusi kumathandiza kufufuza ndi kuchuluka kwachindunji kuopsa kokhala ndi matenda m'thupi la mwana wobadwa. Nkhaniyi imatengedwa kuchipatala, pa tsiku lachinayi, ngati mwanayo waonekera pa nthawi, ndipo patatha mlungu umodzi ali ndi ana asanakwane. Sampuli ya magazi imachokera chidendene. Madontho ake angapo amagwiritsidwa ntchito pamsampha wapadera, ndipo amatumizidwa ku labotore. M'njirayi, madokotala amayamba kukhala ndi chizoloŵezi chotengera matenda monga:
- Cystic fibrosis. Matenda a chibadwidwe, momwe ntchito ya kupuma ndi kugaya zimasokonezedwa.
- Phenylketonuria. Ndi nthenda yoteroyo, ubongo wa ubongo umachita kusintha - matenda a neurological akukula, kutaya maganizo kumapangidwira.
- Congenital hypothyroidism. Matendawa amayamba chifukwa cha kuchepa kwa mahomoni a chithokomiro. Njirayi imalepheretsa kukula kwa thupi ndi maganizo a mwanayo. Hormonotherapy ndi njira yokhayo yochizira.
- Galactosemia. Kusokoneza kayendedwe ka ziwalo zamkati (chiwindi, ndondomeko zamanjenje). Mwanayo akukakamizidwa kusunga zakudya zopanda mkaka, kupatsidwa mankhwala apadera.
- Matenda a Adrenogenital. Anapanga ndi kuchulukitsa kaphatikizidwe ka androgens.
Genetic kusanthula za oncology
Pakati pa kafukufuku wambiri wa momwe chikhalidwe chimayendera, asayansi atha kukhazikitsa mgwirizano wa matendawa ndi cholowa chawo. Pali chomwe chimatchedwa kuti chibadwa choyambitsa matenda a chilengedwe - kukhalapo kwa mtundu wa makolo omwe anawopsa, makamaka kumawonjezera chiopsezo cha chitukuko mwa ana. Mwachitsanzo, akatswiri a sayansi ya zamoyo atulukira kuti majeremusi a BRCA1 ndi BRCA2 ndi omwe amachititsa kuti chitukuko cha m'mawere chifike patsogolo pa 50%. Zomwe zimayambitsa matenda a khansa zimayambitsidwa ndi kusintha kwa majini amenewa.
Genetic kufufuza kwa kunenepa kwambiri
Kwa zaka makumi angapo, akatswiri a zaumoyo apanga maphunziro ochuluka, akuyesera kukhazikitsa chifukwa cholemera kwambiri. Zotsatira zake, zinapezeka kuti, kuwonjezera pa kusowa kwa zakudya m'thupi, kudya kosafunikira, palibenso chibadwa chokhala ndi kunenepa kwambiri. Choncho kuyambira ali wamng'ono, n'zotheka kufufuza chiyanjano pakati pa mndandanda wa misala ya thupi ndi chiwerengero cha kulemera kwake. Nthendayi ndi nthawi ya kusintha kwa mahomoni m'thupi - nthawi ya kutha msinkhu, mimba ndi kuyamwitsa, kusamba kwa nthawi.
Pakati pa majeremusi omwe amachititsa kulemera, majini amatchedwa:
- FTO - wolemetsa;
- HMGI-C - amachititsa kukula kwa maselo a mafuta;
- NRXN3 - imakhudza mapangidwe a kumverera kwa kukhuta;
- FIT1 ndi FIT2 - zimapanga mapangidwe adipocytes - maselo omwe minofu ya mafuta imapangidwira.
Pofufuza mkhalidwe wa ziwalo ndi machitidwe, kuti adziwe momwe zimayendera kunenepa kwambiri, kufufuza kwa chibadwa kumagazi kumachitidwa kuti mudziwe kuchuluka kwa zinthu monga:
- leptin - imayambitsa njira zamagetsi mu thupi, kuwonjezera mphamvu yogwiritsira ntchito mphamvu;
- T4, TSH - mahomoni a chithokomiro;
- hemoglobin yogawanika, shuga - imasonyeza mmene thupi limagwirira ntchito m'magazi.
Kufufuza kwa majeremusi a thrombophilia
Kuwonjezeka kwapangidwe koyambitsa magazi, thrombi, kumatsimikizika pa mlingo wa chibadwidwe. Mmene thupi limagwirira ntchito ndi thrombophilia amadziwika pamene kusinthika kumapezeka mu jini, lomwe limayambitsa magazi - F5. Izi zimabweretsa kuwonjezeka kwa kapangidwe kake kamene kamayambitsa, kamene kamapangitsa kuti magazi asamawonongeke. Kusintha kwa puloteni (prothrombin gene) (F2) kumaphatikizapo kugwirizanitsa kwa chinthu ichi mu coagulation system. Pamaso pa kusintha kotereku, chiopsezo cha thrombosis chimawonjezeka kangapo.
Kuyezetsa magazi kwa lactase sikukwanira
Kusagwirizana kwa Lactose ndi kuphwanya, komwe kumapangitsa thupi kukhala lolephera kutengera shuga wa mkaka, chifukwa cha kuchepa kwa m'matumbo kaphatikizidwe ka mavitamini a lactase. Kawirikawiri, pofuna kukhazikitsa matendawa ndi chiwerengero chake, chiwerengero cha majini chimachitidwa kuti mudziwe majini C / T-13910 ndi C / T-22018. Iwo amadziwika mwachindunji ndi kuchepetsa mphamvu ya michere. Kuwunika kayendedwe kawo kumathandizira pakukhazikitsa chitukuko chosowa kwa ana, ogwira ma jini awa. Kusintha kwa chiwerengero cha majini kumachitidwa ndi akatswiri.
Kuyezetsa magazi kwa Gilbert's syndrome
Matenda a Gilbert - matenda opatsirana omwe amachititsa kuti thupi likhale lopweteka. Kawirikawiri imabereka khalidwe la banja, limachokera kwa makolo kupita kwa ana. Zimaphatikizidwa ndi kuchuluka kwa bilirubin. Chifukwa chake chikuphwanya kusokoneza kwa kapangidwe kake kamene kamakhala ndi chiwindi ndi kutenga nawo gawo la ufulu wa bilirubin. Kuyeza magazi kumathandizira kukhazikitsa matenda pogwiritsa ntchito jini la UGT1 ndi buku lake.
Chibadwa chokhala ndi uchidakwa ndi uchidakwa
Madokotala akuphunzira vutoli akuchita maphunziro autali, kuyesera kukhazikitsa chiyanjano pakati pa zikhumbo za mowa ndi majini. Komabe, chibadwa cha chibadwa cha matenda oterowo sichinakhazikitsidwe. Pali zifukwa zambiri, koma alibe umboni wotsimikiza. Madokotala kawirikawiri amayankhula za matendawa ngati matenda omwe amapezedwa, chifukwa cha chisankho chodziimira. Izi zikutsimikiziridwa ndi anthu opambana, omwe apambana omwe makolo awo amaledzera.
Passport yamtundu
Zolinga zamakono zoonjezera pakati pa mautumiki operekedwawa zikhoza kuwonetsedwa mundandanda monga pasipoti yathanzi yathanzi. Zimaphatikizapo kutengera kwathunthu kwa thupi, lomwe cholinga chake ndi kukhazikitsa zizindikiro za matenda enaake. Kuonjezerapo, kuyesa kwa maofesi a hotelo kumathandizira kuzindikira momwe ntchito inayake ikuyendera, kukhazikitsa matalente obisika.