Nazarin DNA da Dalilin da ya sa yake da amfani

Kwafin halitta zai iya gaya muku game da kwayoyinku da tarihin iyali

Jikin jikinka yana da tarin kwayoyin sel. A cikin kowane ɓangaren waɗannan kwayoyin halitta wani tsari ne da ake kira tsakiya, wanda yake ɗauke da nau'i nau'i nau'i nau'i nau'i biyu na chromosomes wanda ke dauke da bayanan halittar ku. Kowane chromosome yana da tsarin tsararru mai tsawo da ake kira DNA, wanda ya hada da sinadaran da ake kira deoxyribonucleic acid (DNA).

Rabin rabin chromosomes an gaji daga mahaifiyarka kuma rabin rabin ka gaji daga mahaifinka, suna baka nau'i biyu na kowane jinsi.

Mutane suna da kusan kashi 25,000 a cikin duka. Jirginku na DNA shine jerin wadannan nau'in kwayoyin.

Kwayoyinku suna kawo bayani game da abin da ke sa ku, ku. Duk waɗannan nau'i-nau'i suna ƙara don haɗuwa ta musamman, kamar code, wanda ya gaya wa jikinka ko kuna da gashi mai launin ruwan kasa, fata mai laushi, ko idanu mai launin zane mai girma. Hakanan DNA ya kuma gaya wa sassan ku yadda za ku nuna hali, girma, da lokacin da kuka mutu.

Ka yi tunani game da DNA dinka kamar mai girma ne. Matakan suna cikin asali nucleotide. Tsarin bayanan asali shine kamar haruffan haruffa. Wadannan haruffa sune, a biyun, sun shirya cikin hanyoyi da ya fassara "kalmomi." Wadannan kalmomi suna rubuce (kofe) kuma sun fassara (fassara) a cikin sunadaran (enzymes) wanda ke kula da duk abin da ke jikinmu. Idan an canza mutun, zaka iya yin la'akari da shi yayin haɗakar haruffan haruffa. Kalmar ta fito da kuskure kuma dukan jumla ba daidai ba ne. Idan wannan nau'i ko yankin DNA yana da alhakin aiki mai mahimmanci, matsaloli suna haifar.

Idan lambobi na sunadaran da ke kula da sassan jiki, to lallai ciwon daji zai iya faruwa. Wani lokaci kari DNA, kamar guda uku na chromosome a maimakon biyu, zai iya haifar da yanayin dabi'a kamar Down syndrome.

Ana Samun Samun DNA

Lokacin da aka gwada DNA ɗinku, DNA dinku ba ta ɓoye ba ne kuma ya karanta. Tunda kowane tantanin halitta yana da fiye da ƙafa shida na DNA a cikin kowace tantanin halitta (DNA an rufe shi sosai don tabbatar da chromosome, don haka ya dace cikin tsakiya), kowace tantanin halitta zai iya ɗaukar yawan bayanai na kwayoyin halitta gaba ɗaya daga kowacce wasu.

Iyakar abin da kawai shine ma'aurata masu kama da juna, waɗanda suke raba DNA.

Don yin jarrabawar DNA, kuna buƙatar ɗaukar samfurin ku. Wannan samfurin zai iya kasancewa daga jinin ku, fatar jiki, kwayoyin fata ko ma cikin kunjin ku. Idan kana da ciwon daji, za a karbi DNA daga samfurin ka. Yawancin lokaci, likita ko asibitin suna karɓar samfurori na DNA kuma an aika su zuwa gwajin gwaji na musamman wanda aka raba DNA daga sel ɗinku.

Don gwajin jini, an buƙara da sirinji don buƙatar samfurin jini. Don ba da samfurin samfurori, sai ku zuga cikin tube. Don kunshin kunnen kunnen, kunna cikin kuncin ku tare da swab mai yatsa ya kamata kuyi aikin.

Zai ɗauki mako ɗaya ko fiye don sakamakon da zai dawo daga lab, kamar yadda yake daukan ma'aikatan gidan layi lokaci don sake gwadawa da kuma karanta kundin tsarin kwayoyin halitta tare da nau'in DNA.

Gwaji don Cutar Kwayoyin Halitta

Idan likitanku wanda ake tuhuma ku ko yaronku na da cututtukan kwayoyin halitta, zasu tsara ƙarin gwaje-gwaje don tantance matsalar. Masana kimiyya na iya neman sauyawa a cikin wani nau'in da ke hade da wani cututtukan kwayoyin halitta. Yin gwaji na DNA zai iya iya gane duk wani dangin da ke da shi ko kuma yana fuskantar haɗarin, ya haifar da yanayin cututtuka.

Ɗaya daga cikin gwaji na kowa shine jarrabawar phenylketonuria , wanda aka yi akan dukkan jariri. Idan yaronka, saboda rashin daidaituwa ko maye gurbi, ba shi da jinsi wanda ya yi amfani da lamarin phenylalanine hydroxylase, duk abin da suke ci zai iya haifar da lalacewar kwakwalwa. Idan, duk da haka, an gano mahaukacin mahaifa a lokacin haihuwar, yara zasu iya haifar da rayuwa ta al'ada ta hanyar biyan abinci mara kyau.

Wani gwajin da likitanku zai yi shine karyotype . Karyotypes dubi chromosomes a cikin DNA. Ƙarin kofin DNA ko ɓangaren ɓatacce na iya nuna alamun ƙwayoyin halitta. Idan yaronka yana da 47 chromosomes maimakon saba 46 kuma yana da nau'i uku na chromosome 21 a maimakon biyu, suna da ciwon Down .

Down syndrome ne mafi yawan na kowa chromosomal abnormalities. Yawancin ciki da ƙwayar ƙwayoyin chromosomes sun ƙare cikin ɓarna. Idan kana da tarihin rikitarwa na yau da kullum, likita na iya bayar da shawara ga gwajin karyotype na iyaye.

A wasu lokuta, mai yiwuwa ba ku da yanayin jinsin, amma idan kun ɗauki nau'i guda mara kyau a cikin jinsinku, kuna da haɗarin wucewa yanayin zuwa ga 'ya'yanku. Misali na wannan shi ne cystic fibrosis. Cystic fibrosis yana da mawuyacin hali, ma'anar dole ne ka sami gado mai mahimmanci na fadin CFTR daga iyayenka biyu don samun cutar. Iyaye za su iya zaɓar suyi gwajin kwayoyin don cystic fibrosis don ganin idan suna masu sufurin.

Idan ka ɗauki wani nau'i na kwayoyin halitta, likitanka na iya ba da shawara ga gwajin jima'i, wanda aka yi amfani da shi don ganin idan jaririn da aka haifa ta hanyar hakar gwiwar in vitro (IVF) yana da nakasar kwayoyin kuma zaɓin embryos don kafawa wanda ba shi da lafiya.

Wani magani na gwajin kwayoyin yana kallon ciwon sukari. Yawancin ciwace-ciwacen da ke cikin kwayoyin halitta suna "motsi" girma. Kwararrun kwayoyin gwaji ko ko dai wani ciwon daji yana da maye gurbin kwayar halitta tare da maganin magani. Yawancin canji na kwayoyin cututtuka suna faruwa ne bayan haihuwar kuma ba su da kariya ba tare da banda BRCA1 da BRCA2, waɗanda suke da alaka da ciwon nono.

Sauran Irin gwaji

Gwajin gwaji na tabbatar da cewa yaro yana da dangantaka da mahaifinsu. An gwada gwaje-gwaje a kan ƙwayar cutar ta jiki sosai tare da raguwa guda ɗaya, chimerism. Idan kun kasance mai kyauta, sassanku na iya samun DNA dabam dabam. Wannan yana faruwa sau da yawa a cikin tagwaye, waɗanda suka raba DNA tare da wasu ma'aurata; a cikin mahaifiyar da suka haifa kuma sun iya samo DNA daga jaririn su, kuma waɗanda suka sami karfin jini ko sassan jikin su. Ƙasawar Mikiyar Musa ita ce wani nau'i na wariyar launin fata.

Ana amfani da gwaje-gwajen kwayoyi a wuraren zamantakewa. Ƙungiyar binciken bincike na amfani da gwaje-gwaje na musamman don ƙara adadin DNA da aka samu don jarrabawa. DNA a wani wuri na laifi zai iya fitowa daga jini, kwayoyin halitta, ko sauran jikin jiki kamar gashi ko gashi. An yi amfani da DNA mai mahimmanci a forensics.

Yin amfani da kwayoyin jigilar kwayoyin halitta shine jarabawar tsofaffi. DNA daga mutane biyu za a iya kwatanta su idan suna kama da wasu hanyoyi masu mahimmanci da zasu nuna cewa suna da alaƙa. DNA mitochondrial, wanda ya bambanta da DNA, ba a samuwa a tsakiya na kowane tantanin halitta ba, amma an samo shi a cikin mitochondria - organelles a cikin cytoplasm na tantanin halitta wanda ke aiki a matsayin tsirrai na tantanin halitta kuma ya ƙunshi ne kawai chromosome a nannade a cikin da'irar. DNA mitochondrial ya fi guntu fiye da kwayar DNA kuma tana dauke da tsarin (kawai 37 kwayoyin) don kawai 'yan enzymes da ke cikin metabolism.

DNA mitochondrial ya wuce daga mahaifiyar kawai. Wani gwaji na DNA ba ya ba da wani bayani game da mahaifinka amma zai iya taimakawa wajen gane jinsi na mahaifiyar-ko da shekaru da yawa a baya. DNA mitochondrial, wanda ya bambanta da DNA DNA ya fi sauƙi ta zo kuma za'a iya amfani dasu don yin ainihi (a kalla a cikin mahaifiyar) ko da lokacin da babu wani nau'in DNA na yanzu.

Yaya yawancin gwajin gwaji na kwayoyin halitta?

Kudin gwajin DNA ya dogara ne akan irin gwajin da ake buƙata a yi. Wasu gwaje-gwaje masu sauƙi, kamar jarrabawar uba ko wadanda aka yi amfani da su don sauƙaƙe maye gurbin kwayoyin halitta, na iya biyan kuɗi da ɗari dari ko žasa. Ƙarin gwaji mai wuya, irin su cututtukan kwayoyin cututtuka, na iya kashe dubban daloli. Abin farin ciki, saboda jinin kwayoyin halitta da kamfanonin da ke ba da gwaji, wasu gwaje-gwaje da yawa sun rage yawan kuɗi.

Halayyar Kwararrun Halitta

Akwai ƙaramin gardama game da yin amfani da wasu gwaje-gwajen antenatal. Idan an gano wasu yanayi a lokacin haihuwar haihuwa, irin su phenylketonuria, yaronka zai iya samun lafiya a nan gaba. Duk da haka, ba dukkanin yanayi ba za'a iya bi da su kuma wasu ba su bayyana ba har sai sun girma. Ciwon Huntington, ciwon rashin lafiya na ci gaba, yana tasowa daga baya a rayuwa kuma babu magani ko warkarwa. A lokuta kamar waɗannan, wasu mutane sun watsar da gwaji.

A wasu lokuta, za a iya tsinkaya ku zuwa "kwayoyin cututtuka," kamar BRCA1 da BRCA2. Sanin ku yana da wadannan kwayoyin halitta na iya taimaka muku wajen yin shawarwari masu muhimmanci game da lafiyarku. Duk da haka, yana da zabi, kuma idan kun kasance mafi kyau tare da ko ba tare da bayanin ba.

> Sources:

> Chard, R., da kuma Norton. Nazarin Halitta ga Magunguna Binciken Yin Magana da Mahimmanci ga Abun Maɗaukaki Chromosomal. Gwajin Laboratory Clinical . 2016 36 (2): 227-36.

> Fonda Allen, J., Stoll, K., da B. Bernhardt. Bayanin gwaji da gwajin gwajin gwaje-gwaje don Kwayoyin Chromosomal da Mendelian. Seminars a Perinatology . 2016. 49 (1): 44-55.