Nazarin kwayoyin halitta ya zama sanannen bincike. Tare da taimakon irin wannan binciken bincike, likitoci na iya kafa maƙasudin zumunta kawai, amma har da yiwuwar maganin wata cuta. Bari mu duba dalla-dalla game da bincike, za mu fada game da nau'ikansa da siffofin aiwatarwa.
Hanyar hanyoyin binciken kwayoyin
Nazarin kwayoyin halitta - wani babban tsari na binciken gwaje-gwaje, gwaje-gwaje, lura da lissafi. Babban manufar irin wannan matakan shine don ƙayyade dabi'un halayen mutum, nazarin dukiyar duk wani nau'i. Dangane da manufar wannan ko wannan bincike, waɗannan nau'o'i na jarrabawa na dabam sun bambanta a cikin kwayoyin kiwon lafiya:
- nazarin tsarin DNA;
- nazarin chromosome;
- Tsarin daidaitawa na kwayoyin halitta;
- bincike a kan predisposition ga cututtuka.
Nazarin DNA
Yin nazarin wannan binciken kamar yadda DNA ta tanada don kare iyaye yana taimakawa wajen kafa mahaifiyar mahaifiyar yaron da babban kashi. Saboda halinsa, an cire kayan daga uwar, jariri da kuma wanda ake zargi. A matsayin wani abu na bincike zai iya aiki da sutura, jini. Sau da yawa sauƙaƙen buccal ne aka yi (ɗaukar kayan daga cikin ciki na kunci).
Tare da taimakon na'urar musamman, lokacin da aka gudanar da bincike na kwayoyin halitta, wasu ɓangarori a cikin kwayar halittar DNA wadda take ɗauke da bayanan kwayoyin - an bayyana alal misali. A ƙarƙashin ƙarin karuwar, lab yana kimantawa 3 samfurori a yanzu. Da farko, kwayoyin halittar da aka haifa da yaro daga mahaifiyarsa an rarrabe shi, sannan kuma sauran makircin da aka kwatanta da wadanda ke cikin samfurin mahaifin da ake zargin. A gaskiya, an yi nazarin kwayoyin halitta don kare juna.
Nazarin Chromosomal
Binciken burbushin chromosomal yana taimakawa wajen tabbatar da yiwuwar cututtuka masu yiwuwa a cikin jaririn da ba a haifa ba. Don yin wannan, likitoci sunyi amfani da yin nazari. Ya haɗa da samfur samfurin don bincike da duban dan tayi. Ana fassara fassarar sakamakon ne kawai ta likita. A lokaci guda, ba a samo ganewar asali ba bisa kan tantancewa. Abubuwa mara kyau sune nuni don ƙarin gwaji. Bambanci tsakanin dabi'un ka'idoji na iya zama alamar kasancewar irin abubuwan rashin haɗari irin na chromosomal kamar:
- Down ciwo ;
- Kwayoyin cuta 13 da 18;
- Hanyar Turner;
- Klinefelter ta ciwo.
Kwararrun kwayoyin gwagwarmaya a cikin shirin tsara ciki
Tattaunawa don daidaitawar kwayoyin halitta ya samar da yiwuwar haɓaka yaron daga wani abokin tarayya. A aikace, sau da yawa ya nuna cewa yawancin ma'aurata ba su da 'ya'ya har dogon lokaci. A yayin da ake magana da likitoci, a cikin binciken da ake bukata - bincike game da daidaitattun kwayoyin halitta. Ana gudanar da shi a cikin yanayin manyan ɗakunan shan magani da kuma cibiyoyin tsara iyali.
Kwayoyin jikin mutum suna da nauyin gina jiki na HLA wanda ke da nasaba - mutum mai yalwacin mutum. Ya yiwu a kafa fiye da nau'i 800 na wannan furotin. Ayyukansa a cikin jiki shine dacewar ƙwaƙwalwar ƙwayoyin cuta, pathogens. Lokacin da aka gano tsarin dan hanya, sun aika siginar zuwa tsarin na rigakafin, wanda zai fara samar da immunoglobulins. Idan tsarin ba shi da kyau, wannan kuma ya faru a kan amfrayo da ke nunawa, wanda zai haifar da zubar da ciki maras lokaci.
Don warewa ci gaba da wannan halin, likitoci sun bayar da shawarar wucewa da nazarin kwayoyin don dacewa. Lokacin da aka gudanar, an kimanta nauyin haɗin gwiwar abokan tarayya, ana kwatanta kama da su. Ya kamata a lura cewa rashin daidaituwa ba gaskiya ba ce ta hana tsangwama. Bayan da aka haifa, an dauki mace a cikin kulawa, yana ɗaukar nauyin haɗin gestation, lokacin da ta yi ciki a asibiti.
Nazarin halitta a lokacin daukar ciki
Irin wannan binciken ne a matsayin binciken kwayoyin tayin na tayi yana iya yiwuwa a tantance maganin nakasar chromosomal a farkon matakan ci gaban yaron a cikin mahaifa. Irin wannan nazarin ana kiran shi a matsayin bincike. Abun da ya ƙunshi ba wai kawai nazarin kwayoyin halitta na jariri ba, amma kuma jarrabawar jaririn nan gaba tare da taimakon duban dan tayi. Don haka likitoci zasu iya gano ƙananan abubuwan da suka saba da rayuwa, da mugunta. Nazarin wannan binciken yana nufin kawar da magungunan kwayoyin halitta, yana taimaka wajen kafa yiwuwar cigaba, ta hanyar kimanta ƙaddamarwa a cikin jinin mahaukaci kamar:
- HCG ;
- AFP ;
- APP-A.
Sau da yawa irin waɗannan alamun likitocin sunyi amfani, a matsayin alamomi - idan lambobin su basu cika ka'idodin kafa ba, likitoci sunyi karin bayani. Saboda haka, ana amfani da hanyoyi masu banƙyama. Amfani da su yana haɗari da hadarin rikitarwa na ciki. Saboda wannan, ana gudanar da alƙawarin a lokuta masu ban mamaki. Wadannan nau'o'in bincike sun hada da:
- biopsy na chorion - bincike game da nau'ikan sutura na ƙananan envelopes na amfrayo;
- samfurin samfurin samfurin daga igiyar umbilical;
- bincike na ruwa mai amniotic.
Nazarin kwayoyin halitta don yiwuwar cututtuka
Binciken cututtukan cututtukan kwayoyin halitta na taimakawa wajen tantancewa da daidaitattun haɗari na tasowa samfurori a cikin jariri haife. An dauki kayan a asibitin, a ranar 4th, idan jaririn ya bayyana a lokacin, kuma mako guda daga cikin jariran da ba a haifa ba. An samo samfurin samfurin jini daga diddige. Da yawa daga saukad da shi an yi amfani da shi a kan gwajin gwaji na musamman, sa'an nan kuma aika zuwa dakin gwaje-gwaje. A cikin wannan nazarin kwayoyin, likitoci sun kafa wani nau'i ga irin wadannan kwayoyin halitta kamar yadda (cikakkiyar nazarin kwayoyin halitta):
- Cystic fibrosis. Cututtuka na yanayi wanda ke da nasaba, wanda aka yi amfani da tsarin tsarin numfashi da narkewa.
- Phenylketonuria. Da irin wannan cututtuka, sassan kwakwalwa yana canji - ciwon kwakwalwa na ci gaba, ƙaddamar da tunanin tunanin mutum ya samo.
- Tsarin hypothyroidism. Kwayar tana tasowa saboda wani rashi na inborn na hormones thyroid. Wannan tsari ya hana ci gaban jari-hujja da ta jiki. Hormonotherapy shine kadai hanyar magance shi.
- Galactosemia. Rashin hana aiki na gabobin ciki (hanta, tsarin juyayi). An tilasta yaron ya kiyaye abincin da ba abinci ba tare da abinci ba, shan magani na musamman.
- Adrenogenital ciwo. An kirkira tare da ƙara kira na androgens.
Nazarin halittu akan ilimin ilimin kimiyya
A yayin nazari da yawa game da tsarin tsarin ilimin halittu, masana kimiyya sun gudanar da dangantaka da cutar tare da haɗin kai. Akwai wani abin da ake kira jinsin tsinkaye ga cututtuka na halittu - kasancewa a cikin jinsin kakannin da suka kasance mai saukin kamuwa da shi, yana ƙara haɓaka ci gaban ilimin halittu a zuriya. Alal misali, masu binciken kwayoyin halitta sun ƙaddara cewa kwayoyin BRCA1 da BRCA2 suna da alhakin ci gaba da ciwon nono a cikin kashi 50 cikin dari. Halittar kwayar cutar daji ta haifar da maye gurbin wadannan kwayoyin.
Nazarin kwayoyin halitta don kiba
A cikin shekarun da suka wuce, masu gina jiki sun gudanar da bincike da yawa, suna kokarin tabbatar da dalilin kisa. A sakamakon haka, an gano cewa, baya ga rashin abinci mai gina jiki, abincin da ba daidai ba, akwai magungunan kwayoyin da ke tattare da kiba. Don haka tun daga lokacin da ya fara, yana yiwuwa a gano dangantakar dake tsakanin rarrabuwa ta jiki da predisposition zuwa gagarumar karfin. Hakan ya kasance a lokacin canjin yanayi na jikin mutum - tsawon lokacin haihuwa, haihuwa da kuma nono, mazaunawa.
Daga cikin jinsin da ke da alhakin samun wadata, ana kiran jinsin:
- FTO - alhakin nauyi;
- HMGI-C - kunna ci gaban sassan kitsen mai;
- NRXN3 - rinjayar samuwar jiji;
- FIT1 da FIT2 - tayi hankalin samuwar adipocytes - sel daga abin da aka samar da nama.
A lokacin nazarin yanayin kwayoyin halitta da tsarin, don sanin ƙaddara ga kiba, ana aiwatar da kwayoyin jini akan ƙayyadadden abubuwa kamar:
- leptin - sarrafa tsarin tafiyar da rayuwa a jiki, kara yawan kuzarin makamashi;
- T4 free, TSH - thyroid hormones;
- haɓakar haemoglobin glycated, glucose - faɗar da yanayin carbahydrate metabolism.
Nazarin kwayoyin halitta na thrombophilia
Ƙara yawan karfin jiki don samar da jini, thrombi, an ƙaddara a matakin ladabi. An lura da tsinkayen kwayar cutar ta thrombophilia lokacin da maye gurbi a cikin kwayar halitta, wanda ke da alhakin jini ƙaddamar factor - F5. Wannan yana haifar da karuwa a cikin tsarin samfurin thrombin, wadda ke inganta tsarin tafiyar jini. Gyara a cikin gene prothrombin (F2) yana ƙara kiran wannan factor a cikin tsarin coagulation. A gaban irin wannan canji, haɗarin thrombosis yana ƙaruwa sau da yawa.
Nazarin kwayoyin cutar ga lactase insufficiency
Rashin jarabaccen lactose abu ne da ya sabawa, wanda ya gyara jikinsa don rashin iya shayar madarar sukari, saboda ragewa a cikin kira na tsakiya na lactase enzyme. Sau da yawa, domin maganin cutar da kuma tsinkayar da shi, an yi nazarin kwayoyin halitta don sanin ƙwayoyin C / T-13910 da C / T-22018. Suna da alhakin ƙananan kira na enzymes. Binciken tsarin su yana taimakawa wajen tabbatar da yiwuwar ci gaban rashin lafiya a cikin zuriya, masu ɗaukar wadannan kwayoyin. Ana yin ƙaddamar da ƙididdigar kwayoyin halitta ta hanyar kwararru.
Nazarin kwayoyin cutar da cutar ta Gilbert
Cinwan ciwon Gilbert - ilimin cututtuka na al'ada, wanda ke nufin magunguna marasa lafiya. Sau da yawa yana halayyar halayen iyali, ya wuce daga iyaye zuwa yara. An hade shi tare da karuwa a matakin bilirubin. Dalilin ya kasance akan cin zarafin kira na enzyme glucuronyltransferase dauke da shi a cikin hanta Kwayoyin kuma yana shiga cikin ɗaukar bilirubin kyauta. Gwajin gwaje-gwaje na jini yana taimakawa wajen kafa pathology ta hanyar yin la'akari da nauyin UGT1 da kwafinta.
Halittar kwayar halitta ta hanyar maye gurbi
Likitoci suna nazarin matsalar suna gudanar da bincike mai zurfi, suna ƙoƙari su kafa hanyar haɗi tsakanin sha'awar barasa da kwayoyin halitta. Duk da haka, ba a kafa kwayar cutar da irin wannan cuta ba. Akwai wasu maganganu, amma basu da tabbaci. Doctors sun sau da yawa suna magana game da cutar a matsayin rashin lafiya, saboda sakamakon zabi na musamman. An tabbatar da hakan ta hanyar ci gaba, masu cin nasara wanda iyayensu suka sha wahala daga maye gurbin.
Fasfo na halitta
Ƙarawa a cikin dakunan shan magani daga cikin ayyukan da ake bayarwa za a iya gani a cikin jerin kamar fasfo na lafiyar kwayar halitta. Ya ƙunshi cikakken kwayoyin halitta na jiki, wanda ke nufin kafa wani predisposition zuwa wani rukuni na cututtuka. Bugu da ƙari, nazarin jinsin otel din yana taimakawa wajen gano nauyin wani nau'i na aiki, don kafa talikan da aka ɓoye.