Ngaba siza kufumana izifo nakwisizukulwana sethu? (Autosomal Dominant & Recessive Inheritance) Simply

Nawe mhlawumbi ukhe waxelelwa ekhaya, "La mehlo afana nakamama," "Iinwele zam zifana nezatata," okanye "Lo msindo ufana nokatatomkhulu." Enyanisweni, sifumana izinto ezininzi kubazali bethu, njengenkangeleko yethu, ubude, umbala wolusu, kunye nokwakheka kweenwele. Oku sikubiza ngokuba lilifa. Kodwa ngaba ubusazi ukuba ezinye izifo kunye neemeko zempilo nazo zinokufunyanwa njengelifa kwizizukulwana ngezizukulwana? Namhlanje, masithethe malunga nokuba liyintoni eli lifa lemfuza kunye nendlela izifo ezidluliselwa ngayo kwizizukulwana ngezizukulwana.

Okokuqala, masiqonde eli bali lelifa lemfuza.

Ukuze siqonde oku, kufuneka sithethe ngezinye zezona zinto zisisiseko ngemizimba yethu. Cinga ngemizimba yethu njengethala leencwadi elikhulu.

• IiChromosomes: Iincwadi ezikule thala leencwadi zibizwa ngokuba ziichromosomes. Kukho ezingama-46 kwezi ncwadi kwiseli nganye yomntu. Kwezi, ezingama-23 zizuzwe njengelifa kumama kwaye ezinye ezingama-23 zizuzwe njengotata.
• Iigenes: Iigenes ziiresiphi ezibhalwe kwezo ncwadi. Enye iresiphi ikuxelela ukuba uza kuba nombala weenwele onjani, enye ikuxelela ukuba uza kuba nombala wamehlo onjani, enye ikuxelela ukuba uza kuba nobude obungakanani... Kukho amawaka eeresiphi ezinje.
• I-DNA: Oonobumba ababhala le miyalelo babizwa ngokuba yi-DNA. Aba nobumba ababizwa ngokuba yi-DNA bayadibana ukuze benze ii-genes, kwaye ii-genes ziyadibana ukuze zenze ii-chromosomes.

Ngoko ke, ekubeni ufumana ii-chromosomes ezingama-23 nganye kumama wakho nakutata wakho, ufumana iikopi ezimbini zejini nganye. Enye ivela kumama wakho, enye ivela kutata wakho. Ezi jini zimisela yonke into emzimbeni wakho.

Ngoku, lithetha ukuthini igama elithi 'Autosomal'? Kwiichromosomes ezingama-46 emzimbeni wethu, zimbini ezimisela isini sethu. Zibizwa ngokuba ziichromosomes zesini (X kunye no-Y). Iichromosomes ezingama-44 eziseleyo (iiperi ezingama-22) zibalwa. I-Autosomal ithetha ukuba ijini ethile ifumaneka kwenye yezi chromosomes zingama-22 ezibaliweyo.

Iindlela ezimbini eziphambili izifo ezizuzwa ngazo njengelifa (i-Autosomal Dominant kunye ne-Recessive)

I-gene eguqukileyo ebangela isifo idluliselwa kwisizukulwana ngesizukulwana ngeendlela ezimbini eziphambili. Makhe sijonge ezi ndlela zimbini ukuze kube lula ukuziqonda.

I-Autosomal Dominant: Ijini enye, amandla angaphezulu!

Ngamafutshane, igama elithi Dominant lithetha 'ukulawula' okanye 'ukuqina'. Kule nkqubo, ijini etshintshileyo ebangela esi sifo inamandla kakhulu. Ngoko ke, nokuba umntwana uzuze ijini kumzali omnye kuphela, kwanele ukuba umntwana afumane esi sifo.

Ngoko ke, ukuba kukho umntu kusapho onesifo i-Autosomal Dominant disease, sibonakala ngokucacileyo kwizizukulwana ngezizukulwana. Ukuba umama okanye utata unaso, umntwana ngamnye usengozini ye-50%.

Imizekelo yezifo ezizuzwe njengelifa ngendlela elawulayo ye-autosomal:

• Isifo sikaHuntington: Sisifo apho iiseli zemithambo-luvo ebuchotsheni zifa kancinci kancinci.
• I-Marfan syndrome: Yimeko echaphazela izicubu zomzimba ezidityanisiweyo, ebangela umzimba omde nobhityileyo, kunye namalungu neminwe emide.
• I-Achondroplasia: Unobangela ophambili wobu-dwarfism.

I-Autosomal Recessive: Ifuna ii-genes ezimbini, ingafihlwa!

I-Recessive ithetha 'ukuthula' okanye 'isiseko'. Kwimeko enjalo, i-gene etshintshileyo ebangela esi sifo ayinamandla kakhulu. Ukuze ibe nefuthe, i-gene kufuneka ifunyanwe kumama nakutata. Kuphela ukuba zombini ii-genes zidityanisiwe apho umntwana aza kuba nesifo.

Khawucinge nje, bobabini abazali baphilile. Kodwa bobabini banokuba "ngabathwali" bale jini itshintshileyo. Oko kuthetha ukuba banejini esempilweni kunye nejini ebangela esi sifo. Kodwa ngenxa yokuba ijini esempilweni inamandla, ababonisi zimpawu. Kufana nokufaka ithontsi lepeyinti eluhlaza okwesibhakabhaka kwibhakethi yepeyinti emhlophe. Umbala awuyi kutshintsha kangako.

Kodwa xa abazali ababini abathwala abantwana abanjalo benomntwana, nantsi into enokwenzeka:

• Kukho amathuba angama-25% okuba umntwana afumane zombini ii-genes ezisempilweni kumama nakutata aze abe sempilweni ngokupheleleyo.
• Kukho amathuba angama-50% okuba umntwana abe nomntwana ongenazimpawu, njengabazali bakhe.
• Kukho amathuba angama-25% okuba umntwana azuze ilifa le jini ebangela esi sifo kumama nakutata aze abe nale meko.

Ngoko ke, nokuba akukho mntu unesifo kusapho, umntwana unokufumana isifo ngequbuliso. Oku kungenxa yokuba abazali ngabona bathwali baso bengazi.

Imizekelo yezifo ezizuzwe njengelifa ngendlela ye-autosomal recessive:

• I-Cystic fibrosis: Isifo esichaphazela imiphunga kunye nenkqubo yokugaya ukutya ngenxa yokuqina kwe-mucus (efana nolwelo) emzimbeni.
• Isifo seSickle cell: Isifo sokulahlekelwa yigazi esibangelwa kukutshintsha kwesimo seeseli ezibomvu zegazi.
• Isifo sikaTay-Sachs: Sisifo esibulalayo esitshabalalisa iiseli zemithambo-luvo engqondweni nasemgogodleni.

Kwenzeka njani utshintsho kwiijini?

Ngamanye amaxesha, xa iiseli zethu zahlukana, kwenzeka iimpazamo ezincinci ekukopisheni i-DNA. Kufana neleta ehambahambayo xa kukopishwa incwadi. Ezi sizibiza ngokuba ziinguqu zemfuza. Ezi azisoloko zimbi, kwaye ezinye zazo azinampembelelo konke konke. Kodwa ezinye iinguqulelo zinokutshintsha indlela esebenza ngayo i-gene kwaye zibangele izifo.

Kukho iintlobo ezininzi eziphambili zeziphene:

• Ukutshintshwa: Ukutshintshwa konobumba omnye kwikhowudi ye-DNA ngolunye.
• Ukufakwa: Ukongezwa konobumba owongezelelweyo kwikhowudi ye-DNA.
• Ukususwa: Ukususwa kweleta kwikhowudi ye-DNA.

Kwanolu tshintsho luncinci lunokutshintsha ngokupheleleyo umsebenzi weproteni eveliswa yi-gene kwaye lubangele izifo.

Ufanele wenze ntoni ukuba unamathandabuzo ngale nto?

Ukuba kukho umntu kusapho lwakho onesifo esibangelwa lufuzo, okanye ukuba nibabini niceba ukuba nomntwana kwaye niziva nisengozini, eyona nto ingcono onokuyenza kukuthetha nogqirha wakho ngaso.

Kule mihla, kukho iinkonzo ezifana novavanyo lwemfuza kunye neengcebiso ngemfuza.

• Uvavanyo lwe-genetic:Ezi zinokuchonga naluphi na utshintsho kwiijini zakho, iikhromosomu, okanye iiproteni. Olu vavanyo lunceda ekuqinisekiseni ukuba unejini eguqukileyo ebangela isifo, okanye ukuba ungumthwali waso.
• Ingcebiso ngezofuzo: Umcebisi ngezofuzo angakunceda uqonde ezi ziphumo zovavanyo, athethe ngeengozi ezichaphazela usapho lwakho, kwaye acebe ikamva.

Ngaba singayigcina impilo ye-DNA yethu?

Nangona singenakukwazi ukutshintsha ii-genes esizizuze njengelifa kubazali bethu, kukho izinto ezininzi esinokuzenza ukunciphisa umonakalo kwi-DNA yethu ubomi bethu bonke nokugcina impilo yayo isempilweni.

• Yitya ukutya okunesondlo. Ukutya okunesondlo kunceda ukugcina iiseli zethu ziphilile.
• Zilolonge rhoqo. Ukuzilolonga kuphucula impilo yomzimba iyonke.
• Kuphephe ukutshaya ngokupheleleyo. Iikhemikhali ezikwicuba zingonakalisa ngqo i-DNA.
• Nciphisa ukusetyenziswa kotywala. Ukusela utywala kakhulu kuyingozi nakwiiseli.
• Funa uhlolo lwezonyango kunye neengcebiso ngexesha elifanelekileyo. Kubaluleke kakhulu ukufumanisa nayiphi na ingxaki kwasekuqaleni.

Ezi zinto zinokugcina impilo yethu iyonke ilungile.