Uvavanyo lwe-Genetic lunokukuxelela malunga neenjenge zakho kunye nembali yakho yentsapho
Umzimba wakho wenziwe ngeetriliyoni zeeseli. Ngaphakathi nganye yala maseli isakhiwo esibizwa ngokuba yinucleus, esineendidi ezingama-23 zama-chromosomes ezithwala ulwazi lwakho lofuzo. I-chromosome ngayinye yenziwe ngumbumba omde onjenge-DNA, owenziwe yikhemikhali ebizwa ngokuba yi-deoxyribonucleic acid (DNA).
Ingxenye ye-chromosomes yakho izuze ilifa kumama wakho kunye nesinye isiqingatha izuzwe nguyihlo, ikunike iikopi ezimbini ze-gene.
Abantu baneendawo ezingama-25,000 ezipheleleyo. I-DNA yakho ilandelelanisa le mibini yesibini.
Izaziso zakho ziphethe ulwazi malunga nento eyenza wena, wena. Zonke ezo zibini zidibanisa ukwenza udibaniso oluyingqayizivele, njengekhowudi, etshela umzimba wakho ukuba uya kuba neenwele ezimnyama, isikhumba seminquma, okanye amehlo omama omnxeba omhlophe. I-DNA yakho iphinda ixelele iiseli zakho ukuba ziphathe njani, zikhule kwaye zife.
Cinga nge-DNA yakho ukuba ingaba liphezulu. Amanyathelo akhiwe ngamaseko e-nucleotide. Umyalelo weziseko zifana neeleta ze-alfabhethi. Ezi ncwadi zihlelwe ngeendlela ezithethi "amagama." La magama aqoshiwe (akopishwe) kwaye aguqulelwe (atyhilwa) kwiiprotheni (i-enzymes) elawula yonke into emzimbeni wethu. Ukuba i-gene iguqulwa, ungacinga ngayo njengokuxuba iileta ze-alfabhethi. Igama liphuma libi kwaye isivakalisi sonke asibi. Ukuba loo geni okanye indawo ye-DNA ibangela umsebenzi obalulekileyo, iingxaki zibangelwa.
Ukuba idibanisa iiprotheni ezilawula ukwahlukana kwesellu, umhlaza ungenzeka. Ngamanye amaxesha i-DNA eyongezelelweyo, njengeentlobo ezintathu ze-chromosome endaweni yezibini, kunokukhokelela kwiimeko zofuzo ezifana ne-Down syndrome.
Ukufumana i-DNA yakho yokuvavanywa
Xa uhlolwe i-DNA yakho, i-DNA yakho ichazwe kwaye ifundwa. Ekubeni iseli ngalinye linama-6 engama-DNA ngaphakathi kwiseli nganye (i-DNA ihlanganiswe ngokugqithiseleyo ukuze yenze i-chromosome, ukuze ifike ngaphakathi ngaphakathi), iseli nganye sinokukwazi ukugcina ulwazi oluninzi lwezofuzo oluhluke ngokupheleleyo kunoma ubani enye.
Okukuphela kwendlela efana namawele afanayo, abelana ngeDNA efanayo.
Ukwenza uvavanyo lwe-DNA, kuya kufuneka uthathe isampuli yeeseli zakho. Le sampuli ingaba yigazi lakho, i-saliva, iiseli zesikhumba okanye ngaphakathi kwidama lakho. Ukuba unomdlavuza, i-DNA yakho iya kuthathwa kwisampuli yesisu sakho. Ngokuqhelekileyo, iisampuli ze-DNA zinyango zithathwa ngugqirha okanye kwikliniki kwaye zithunyelwa kwi-lab yokuhlola i-genetic ekhethekileyo apho i-DNA yakho ihlukaniswe kwiiseli zakho.
Ukuhlolwa kwegazi, inaliti kunye nesirinji kuyadingeka ukuba udwebe isampuli yegazi. Ukuze unike isampuli se-saliva, ukhahlela kwi-tube. Ukuze i-swab itekisi, ukukhangela ngaphakathi kwesitram sakho nge-swab enkulu ye-cotton kufuneka wenze loo msebenzi.
Kuya kuthatha iiveki okanye ngaphezulu ukufumana iziphumo zokubuya kwibhuyibhile, njengoko kuthatha ixesha lezakhono zobungcali ukuba livule kwaye lifunde ukulandelana kwemfuzo kwi-DNA strand.
Uvavanyo lweengxaki ze-Genetic
Ukuba ugqirha wakho ugxeka wena okanye umntwana wakho unesifo somzimba, baya kulandela iimvavanyo ezingaphezulu ukuze baxilonge ingxaki. Izazinzulu ziyakwazi ukutshintsha utshintsho oluthile oluhambelana nesifo esithile somzimba. Uvavanyo lwe-DNA luyakwazi ukuchonga nawaphi na amalungu entsapho asemngciphekweni, ukuphucula i-genetic disorder.
Olunye uvavanyo oluqhelekileyo luvavanyo lwe phenylketonuria , eyenziwa kuzo zonke iintsana ezisandul 'ukuzalwa. Ukuba umntwana wakho, ngenxa yokufa okanye ukuguqulwa, akanalo umgulo owenza iikhoylalanine hydroxylase enzyme, nayiphi na i-phenylalanine ayidlayo ingakhokelela kumonakalo wengqondo. Ukuba, nangona kunjalo, i-geni engaqhelekanga ifunyanwe ekuzalweni, abantwana banokuphila ubomi obuqhelekileyo ngokulandela ukutya okunqandekayo.
Olunye uvavanyo lwakho ugqirha unokuyalela ukuba luyikaryotype . AmaKaryotypes abukela i-chromosomes kwi-DNA. Iikopi ezongezelelweyo zeDNA okanye izicatshana ezingekhoyo zingabonisa ukungaqhelekanga kwemfuyo. Ukuba umntwana wakho unama-chromosomes angama-47 endaweni ye-46 evamile kwaye eneempawu ezintathu ze-chromosome 21 esikhundleni sezinto ezimbini, bane- Down syndrome .
I-Down syndrome yinto engavamile kakhulu ye-chromosomal. Ukukhulelwa okuninzi kunye nenani elingavumelekanga lama-chromosomes liphela ekuphumuleni. Ukuba unembali yeengxowa-mpahla eziqhelekileyo, ugqirha wakho unokuncoma uvavanyo lwekaryotype yomzali.
Kwezinye iimeko, ungeke ube nesimo somzimba, kodwa ukuba uhamba nekopi engavumelekanga kwiijethi zakho, ubeka umngcipheko wokudlula le meko kubantwana bakho. Umzekelo wale nto yi-cystic fibrosis. I-Cystic fibrosis yimeko eguquguqukayo ye-autosomal, oku kuthetha ukuba kufuneka uzuze ikopi engavumelekanga yegciwane le-CFTR kubantwana bakho bobabini ukuze ube nesifo. Abazali banokukhetha ukuhlolwa kofuzo lwe-cystic fibrosis ukubona ukuba ngaba bayithwala.
Ukuba uphatha imeko ethile yemfuza, ugqirha wakho unokucebisa ukuhlolwa kwe-genetic pre-plantation, esetyenzisiweyo ukubona ukuba i-embryo ekhulelwe yi-vitro fertilization (IVF) ine-genetic disorder kwakunye nokukhetha ama-embrasi okufakela ingxaki.
Olunye unyango lwezonyango lwezilwanyana lujonge iindumbu. Iimvumi ezininzi zinokuguquka kwemfuyo "eqhuba" ukukhula kwazo. Ukuvavanya i-genetic kunokuxelela ukuba ngaba umhlaza othile unesifo sokuguquka komzimba kunye nophathwe lweziyobisi. Uninzi lweenguqu zomzimba kumhlaza wesifo luvela emva kokuzalwa kwaye aluyilifa ngaphandle kwe-BRCA1 ne-BRCA2, ehambelana nomhlaza wesibele.
Ezinye iintlobo zovavanyo lokuGenesis
Ukuvavanywa kwamanye amazwe kuqinisekisa ukuba umntwana wakho uhambelana nofuzo. Uvavanyo lwezilwanyana lubhekwe njengokwethenjelwa kakhulu kunye neyodwa inqabileyo, ukukhwabanisa. Ukuba uyisimera, iiseli zakho zinokuba ne-DNA eyahlukileyo. Oku kwenzeka rhoqo ngamawele, abelana ngeDNA kunye namanye amawele; koomama abaye bazalela kwaye mhlawumbi baye bathabatha i-DNA ukusuka kwintsana yabo, kunye nalabo abaye bampontshelwa okanye abaguqula umzimba. I-Mosaic Down syndrome enye indlela ye-chimera.
Ukuvavanya kwe-Genetic kusetyenziswa nakwiindawo zobugebengu. Amaqela ophando ophando asebenzisa iimvavanyo ezizodwa ukunyusa inani le-DNA ekhoyo yoviwo. I-DNA kwimeko yolwaphulo-mthetho inokuvela kwiiseli zegazi, iindidi zesisu, okanye ezinye iiseli zomzimba ezifana neenwele okanye umatha. I-DNA yeMitochondrial ayidla ngokuqhelekileyo isetyenziswe kwiimphambili.
Ukusetyenziswa kokusetyenziswa kweemvavanyo zofuzo kukuhlolwa kookhokho. I-DNA evela kubantu ababini inokuthelekiswa nokubona ukuba ifana neendlela ezithile ezibalulekileyo eziza kuthetha ukuba zihlobene. I-DNA yeMitochondrial, ngokungafani ne-DNA yenyukliya, ayifumaneki kwinucleus yeselinye nganye, kodwa ifunyanwe kwi-mitochondria - organelles kwi-cytoplasm yeseli esenza njengesityalo seseli kwaye iqukethe enye i-chromosome zihlanganiswe kwisangqa. I-DNA yeMitochondrial imfutshane kakhulu kune-DNA yenyukliya kwaye ihamba neprogram (iigleji ezingama-37 nje kuphela) ngee-enzyme ezimbalwa ezibandakanyeka kwi-metabolism.
I-DNA yeMitochondrial idluliselwa ukusuka kumama yodwa. Uvavanyo lwe-DNA lwama-mitochondrial aluniki naluphi na ulwazi ngobawo kodwa luyakunceda ekufumaneni umgca womama-kwaneminyaka emininzi edlulileyo. I-DNA yeMitochondrial, ngokungafani ne-DNA yenyukliya kulula kakhulu ukuba ifike kwaye ingasetyenziselwa ukwenza ubuncinane (ubuncinci besifazane) nangona kungekho nkunkuma ye-DNA enyukliya.
Iindleko zoVavanyo lweMpawu zoBomi?
Iindleko zovavanyo lwe-DNA luxhomekeke kukuphi uhlobo lovavanyo olufunekayo lwenziwe. Ezinye izilingo ezilula, njengezilingo zohlobo lwezilwanyana okanye ezo zisetyenziselwa ukuguqulwa kwezinto eziphathekayo ngokulula, zingabiza iindleko ezimbalwa zeedola okanye ngaphantsi. Ukuvavanya okunzima kunzima, njengengxaki engavumelekanga ye-genetic, kunokuhlawula amawaka eedola. Ngethamsanqa, ngenxa yezinto zokuqala zemizimba kunye neenkampani ezinikezela ukuvavanya kookhokho, iimvavanyo eziqhelekileyo ziye zahla ngeendleko.
Ukuziphatha kovavanyo lweGenesis
Kukho ukuphikisana okukodwa malunga nokusetyenziswa rhoqo kwezilingo ezithile zokubeletha. Ukuba iimeko ezithile zifunyanwa ekuzalweni, njenge-phenylketonuria, umntwana wakho unokuba nekamva eliphilileyo. Nangona kunjalo, akuyiyo yonke imfuza yokuphathwa kwaye ezinye zingabonakali kude kube ngumdala. Isifo sikaHuntington, isifo esiqhubekayo segazi, siphucula emva koko kwaye asinakho unyango okanye unyango. Kwiimeko ezifana nalezi, abanye abantu bahlola ukuhlola.
Kwamanye amaxesha, unokuthi ulungiswe "kumhlaza wesifo somhlaza," njenge-BRCA1 ne-BRCA2. Ukwazi ukuba unazo izakhi zofuzo zingakunceda wenze izigqibo ezibalulekileyo malunga nempilo yakho. Nangona kunjalo, ukhetho lwakho, kwaye ukuba uphumelele okanye ungenalo ulwazi.
> Imithombo:
> Chard, R., kunye noMn. Norton. Ukucebisa ngeGenetic for Patients Ukuqwalasela ukuCoca nokuChengisisa ngeCromosomal. Uvavanyo lweLebhulokhi yeZilwanyana . 2016. 36 (2): 227-36.
> Fonda Allen, J., Stoll, K., noBernhardt. Ukululekwa kwe-Genetic Pre-Post Test Testing for Chromosomal and Mendelian Disorders. Iisemina kwiPerinatology . 2016. 49 (1): 44-55.