Mene ne cytogenetic binciken?

Modern magani iya bayar da expectant iyaye ba kawai sani da jima'i da jariri da kuma ganin ya fuska fasali, amma kuma a gaba domin sanin abin da cututtuka suna jiran zuriyarsu a nan gaba. Yana taimaka a cytogenetic binciken. Domin ta gudanar kawai 'yan milliliters na jini ko kuma wani ruwa / fetal nama. Bayan da hadaddun sunadarai da kuma ta jiki magudi da kayan likita-jini iya ba da amsoshin tambayoyi bakwai.

definition

Cytogenetic nazari - a microbiological nazarin mutum kayyade kayan su gane gene, chromosomal ko mitochondrial maye gurbi da kuma ciwon daji. A darajar wannan binciken ne m da samuwan Kwayoyin for karyotyping da kuma nazarin canje-canje da ke faruwa a gare su.

Bayyanar wani jigidar halittar DNA a cikin cell nucleus din dabam ƙwarai dangane da lokaci na cell sake zagayowar. Domin gudanar da wani bincike, shi wajibi ne cewa akwai wata Tasrifu na chromosomes, wanda shi ne a metaphase na meiosis. A wani ingantaccen shinge kayan kowane chromosome ne a bayyane kamar yadda biyu raba chromatids shirya a tsakiyar cell. Wannan shi ne cikakken da suke ciyarwa a cytogenetic binciken. Human al'ada karyotype kunshi 22 nau'i-nau'i daga autosomes da biyu jima'i chromosomes. A mata, shi ne XX, da kuma maza - XY.

shaidar

Cytological jarrabawa aka gudanar a gaban takamaiman alamomi daga iyaye biyu da kuma daga yaro:

- namiji rashin haihuwa.
- Primary amenorrhea.
- sabõda ashara.
- wani tarihi na stillbirth.
- ciwon yara da chromosomal munanan;
- gaban yara tare da na cin gaba nakasa.
- kafin hanya a vitro hadi (IVF).
- A tarihin m IVF.

akwai wasu alamomi da tayin:

- gaban haifa ba malformations.
- shafi tunanin mutum retardation.
- psychomotor retardation.
- jinsi anomaly.

Bincike na jini da kuma bargo

Cytogenetic bincike na jini da kuma bargo da aka yi amfani da sanin da karyotype, ganowa gwada yawa da kuma gwajin kwari ƙarara a cikin tsarin da chromosome, da kuma tabbatarwa da ciwon daji. Maikacin jini tare da nuclei (leukocytes) sun mai ladabi a girma matsakaici na kwana uku, sa'an nan da sakamakon abu ne gyarawa a kan wani microscope nunin da kuma nazari a karkashin wani hange. A wannan mataki yana da muhimmanci ingancin abu da kuma batawa da ajali matakin na wani dakin gwaje-gwaje likita wanda zai gudanar da binciken.

Don bincika bargo dole ne a samu daga wani biopsy samfurin na akalla ashirin Kwayoyin. Shinge kayan kamata a da za'ayi kawai a karkashin yanayi na wani likita ma'aikata, kamar yadda mai raɗaɗi hanya, da kuma a Bugu da kari, bakararre yanayi ne na wajibi su hana huda site na kamuwa da cuta.

fetal nazari

Cytogenetic nazarin fetal nada likita-jini, bayan shawara da biyu. Akwai da dama zaɓuɓɓuka saboda wannan tarin kayan bincike. A farkon - wani biopsy na mahaifa. Shinge abu cytogenetic nazari chorionic yi transvaginal karkashin duban dan tayi iko. Tsammãni allura da aka dauka 'yan villi gaba mahaifa, wanda riga dauke da DNA amfrayo. A hanya za a iya za'ayi da 10 ga watan da ya gabata na ciki. Daga watan uku ne a yarda a yi wani amniocentesis. Wannan tsammãni daga ruwar, inda epithelial Kwayoyin da tayin wanda za a iya amfani da a matsayin abu don karatu.

The uku wani zaɓi - cordocentesis. Wannan hanya na iya cutar da jaririn, don haka shaidun dole ne isasshe tursasawa. Ta hanyar da na ciki bango a cikin amniotic kumfa shiga allura, wanda sai na samu a cikin jijiya daga cikin cibiyarki igiyar jini da kuma dauki bangare. A dukan hanya aka yi a karkashin duban dan tayi iko.

Tare da wadannan hanyoyi yana yiwuwa domin sanin monogenic, chromosomal da mitochondrial Pathology na yaro da kuma yanke shawara a kan tsawo ko karewa ciki.

Analysis na ƙari Kwayoyin

Kwayoyin cytogenetic nazarin chromosomes na ciwon daji Kwayoyin ne wuya saboda su morphological canje-canje, kazalika da wuya a ga makada. Wannan na iya zama wani translocation, shafewa, kuma haka a. G. Amfani da hybridization a wuri (watau. E., "A cikin tabo") a kan nazarin irin samfurori ga halin yanzu matakin. Wannan ya nuna a wurin da chromosomes a wani kwayoyin na DNA ko RNA. Yana da haka ne zai yiwu don bincika alamomi da kuma sauran cututtuka. Yana da muhimmanci cewa bincike za a iya za'ayi ba kawai don metaphase, amma kuma a Interphase, wanda qara adadin kayan.

Main kama shi ne daidai a alamomi na ciwon daji, tun a kowane hali wajibi ne su shirya wani mutum nucleotide jerin da kuma yada shi. Sa'an nan, bayan tara Yã isa zama adadin manufa DNA, shi ne da za'ayi, a gaskiya, hybridization. A karshen kana bukatar ka rabu da yankunan da aka gano, da kuma zana a ƙarshe a kan sakamakon binciken.

Iri chromosome cuta

Yau akwai da dama iri chromosomal munanan:

- monosomy - da ciwon daya kawai chromosome wata biyu (Shereshevscky cuta - Turner).
- trisomy - ƙara wani chromosome (da cider superwoman supermuzhchiny, Down ciwo, Patau, Edwards).
- shafewa - cire chromosome yankin (mosaic siffar chromosomal munanan).
- kwafi - duplicating wasu chromosome hannu rabo.
- inversion - nuna chromosome yankin ne daya ɗari da tamanin da darajõji;
- translocation - da canja wurin da rabo daga cikin genome daga daya chromosome zuwa wani.

Tsarin munanan na chromosomes aka canjawa wuri zuwa ƙarni na gaba da za su tara, don haka na kara hadarin haihuwar rashin lafiya yara. Material cytogenetic nazarin hankali yayi nazari ga lalacewa, kuma shi ne kammala da cewa, jihar na dukan kwayoyin.

The asibiti muhimmancin

A cell cewa ya samu ko nakasar anomaly, zai iya zama riga na dukan iyalin Kwayoyin cewa samar da wata ƙari ko stigma disembriogeneza. Su dace da ganewa facilitates farkon ganewar asali da kuma yanke shawara a kan m magani dabara. Cytogenetic nazari bayar da wata dama ga mutane da yawa ma'aurata, da ciwon m recessive genes cewa ba ta haifi yara masu lafiya, ko, idan ba zai yiwu ba, domin yin tunãni a kan aiwatar da IVF da surrogacy.