Sonke sinolwazi lwethu lwezakhi zofuzo olugcinwe ngaphakathi kwamaseli emizimba yethu. Kufana nezincwadi emtatsheni omkhulu wezincwadi. Lezi zincwadi sizibiza ngokuthi ama-chromosome. Sikhula nengxenye evela kumama wethu nengxenye evela kubaba. Kodwa cabanga, ngezinye izikhathi amakhasi amabili alezi zincwadi ayadabuka, bese ikhasi elivela encwadini eyodwa linamathela kwelinye, bese ikhasi elivela encwadini enye linamathela kule ncwadi. Yileyo ndlela esibiza ngayo i-translocation kwezokwelapha lapho izingxenye zama-chromosome amabili zihlukana futhi zishintshana. Ungesabi uma uzwa leli gama. Abantu abaningi bangaba nalokhu, futhi bangase bangazi nokuthi kwenzekani. Ake sibone ukuthi kuyini ngempela.
Luyini lolu shintsho lwezakhi zofuzo olubizwa ngokuthi i-Translocation?
Kalula nje, i-translocation wushintsho ekwakhiweni kwama-chromosome. Lokhu kwenzeka lapho ingxenye ye-chromosome eyodwa iphuka bese inamathela kwenye i-chromosome. Ngezinye izikhathi, ingxenye ephukile ye-chromosome yesibili inganamathela neyokuqala.
Ngaphakathi kwe-nucleus yeseli ngalinye lethu, kunezimbili zama-chromosome. Lokho kuyinani lama-chromosome angu-46. Kulawa, izimbili ezingama-22 zilawula zonke ezinye izici zomzimba (ama-autosome), kanti izimbili zokugcina zinquma ubulili bethu (ama-chromosome angu-X no-Y).
Ukudluliselwa kungahlukaniswa ngezinhlobo ezimbili eziyinhloko:
1. Ukudluliselwa Kwendawo Okushintshanayo: Lokhu kwenzeka lapho kushintshaniswa izingxenye zama-chromosome amabili ahlukene. Cabanga ngengxenye ye-chromosome 7 idluliselwa ku-chromosome 21, kanye nengxenye ye-chromosome 21 idluliselwa ku-chromosome 7.
2. Ukudluliselwa kweRobertsonian: Lokhu kwenzeka lapho i-chromosome eyodwa inamathela ngokuphelele kwenye i-chromosome.
Manje kukhona enye into ebalulekile. Uma lezi zingxenye zishintshwa, kodwa kungabikho ulwazi lwezakhi zofuzo olulahlekile noma olutholakalayo, sikubiza ngokuthi i-Balanced Translocation . Umuntu onalokhu ngokuvamile akanazo izinkinga zempilo. Kodwa-ke, uma ulwazi oluthile lwezakhi zofuzo lulahleka noma lutholakala ngenxa yalokhu kushintshana, sikubiza ngokuthi i-Unbalanced Translocation . Yilapho izinkinga ezahlukene zempilo ziqala khona.
Ingabe kumane nje kuwukushintshela kwenye indawo? Ezinye izinguquko ezingase zenzeke kuma-chromosome
Ngaphezu kokudluliselwa kwezakhi zofuzo, kunezinye izinguquko eziningana ezingase zenzeke esakhiweni sama-chromosome. Lokhu kungaphazamisa inqubo yokukhiqizwa kwamaprotheni emzimbeni wethu futhi kuthinte ukusebenza kwamaseli nezicubu. Ake sibheke ukuthi ziyini.
| Uhlobo loshintsho | Kwenzekani nje |
|---|---|
| Ukususwa | Ingxenye ye-chromosome iyaphuka bese isuswa. Lokhu kungabangela ukulahlekelwa izakhi zofuzo eziningana noma ezingamakhulu emzimbeni. |
| Ukukopisha | Ingxenye ye-chromosome ikopishwa kabili ngendlela engavamile, okunikeza ulwazi olwengeziwe lwezakhi zofuzo. |
| Ukuguqulwa (ukuguqula ingxenye ibe ngenye indlela) | I-chromosome iphuka ezindaweni ezimbili, bese ingxenye iphenduka futhi inamathele. |
| Ezinye izinguquko eziyinkimbinkimbi | Ukwehluka okuyinkimbinkimbi kakhulu kungenzeka, njenge-isochromosome (ama-chromosome anezingalo ezimbili ezifanayo) kanye nama-chromosome ayindandatho (ama-chromosome abunjwe njengendandatho). |
Kubaluleke nini lokhu kufuduka?
Kunezigidi zamaseli emzimbeni wethu. Uma elilodwa nje kulawa maseli lidlula kulolu hlobo loshintsho, ngeke libe nomthelela omkhulu. Lelo seli cishe lizofa ngemva kwesikhashana.
Kodwa-ke, lokhu kushintshela esibelethweni kubaluleke kakhulu kuphela uma kwenzeka eqandeni likamama (iqanda), esidodaneni sikababa (isidoda), noma engqamuzaneni lokuqala elakhiwe ukuhlangana kwalaba ababili (i-zygote).
Cabanga nje, lelo seli elilodwa liyahlukana futhi lihlukane ukuze kwakheke umntwana ophelele. Lokho kusho ukuthi lonke iseli emzimbeni wengane linalokho kufuduka. Yilapho izifo ezahlukahlukene zenzeka khona ngenxa yokwanda noma ukuncipha kolwazi lwezakhi zofuzo.
Ngezinye izikhathi lolu shintsho lwenzeka ngemva kokuba umntwana ekhulelwe. Khona-ke amanye amangqamuzana emzimbeni angase abe ajwayelekile kanti amanye amangqamuzana angase abe nokudluliselwa. Lokhu sikubiza ngokuthi i-Mosaicism .
Ake sibheke isibonelo sangempela.
Ukuze sikuqonde kangcono lokhu, ake sithathe isibonelo. Ake sithi kukhona umuntu, ake simbize ngokuthi uSunil. USunil akanaso isifo, uphilile. Kodwa uma sihlola izakhi zofuzo zakhe, une-translocation elinganiselayo phakathi kwama-chromosome akhe angu-7 no-21. Lokho kusho ukuthi izingxenye zishintshiwe, kodwa unalo lonke ulwazi oludingekayo lwezakhi zofuzo emzimbeni wakhe. Ngakho-ke, akanazo izinkinga.
Inkinga ifika lapho kwenziwa umntwana. Lapho kwenziwa isidoda emzimbeni kaSunil, ama-chromosome ayahlukana. Lapha, ngeshwa, isidoda esithile singathwala i-chromosome yesi-7 ngengxenye ye-21st enamathiselwe esikhundleni se-chromosome yesi-7th evamile. Ngesikhathi esifanayo, i-chromosome evamile yama-21st nayo ingaya kuleyo sidoda.
Manje, kwenzekani uma lesi sidoda sihlangana neqanda elinempilo bese kuzalwa umntwana? Umama uthola i-chromosome eyodwa yama-21. Ubaba (uSunil) uthola i-chromosome ejwayelekile yama-21 kanye nengxenye ye-chromosome yama-21 enamathele ku-chromosome 7. Ngemuva kwalokho, amangqamuzana engane anezingcezu ezintathu zolwazi lwezakhi zofuzo ezihlobene ne-chromosome 21. Yilokho esikubiza ngokuthi i-Down syndrome .
Manje uyaqonda ukuthi umuntu onesifo sofuba esingalingani angaba kanjani nomntwana onesifo sofuba esingalingani, ngisho noma engenazo izimpawu?
Izifo ezingabangelwa ukufuduka kwezicubu
Kunezimo eziningana zezokwelapha eziyinhloko ezingabangelwa ukufuduka kwengane.
| Isimo sezokwelapha | Ama-chromosome ahlotshaniswa njalo kanye nencazelo |
|---|---|
| I-Down syndrome | Lesi simo sivame ukubangelwa ukuba khona kwamakhophi amathathu e-chromosome 21 esikhundleni samakhophi amabili (i-Trisomy 21). Kodwa-ke, iphesenti elincane lamacala libangelwa ukudluliselwa kwe-chromosome. Okuvame kakhulu ukushintshana phakathi kwama-chromosome 14 no-21. Laba bantwana bangaba nezinkinga enhliziyweni, emgudwini wokugaya ukudla, kanye nomgogodla. |
| I-Chronic Myelogenous Leukemia (CML) | Lolu uhlobo lomdlavuza wegazi. Lubangelwa ukudluliselwa phakathi kwama-chromosome 9 no-22. I-chromosome entsha yama-22 eyakheka ngenxa yalokho ibizwa ngokuthi i-Philadelphia chromosome.Lokhu kubangela ukuthi kukhiqizwe i-enzyme engajwayelekile, okubangela ukuba amangqamuzana omdlavuza akhule ngendlela engalawuleki. |
| I-Lymphoma nezinye izinhlobo ze-leukemia | Ukudluliselwa kwamanye ama-chromosome, njenge-chromosome 8 kanye ne-11, nakho kungabangela izinhlobo ezahlukene ze-leukemia kanye ne-lymphoma. |
Umlayezo Wokuya Nawe Ekhaya
- Ukudluliselwa kwesinye isilwane kungase kungabi yingozi (kulinganiswe), noma kungabangela izifo ezinkulu (kungalingani).
- Uma une-translocation elinganiselayo, ungaphila impilo enempilo. Izinkinga ongase ube nazo kuphela uma unezingane.
- Lesi simo singazuzwa kubazali, noma singakhula ngesikhathi sokukhulelwa.
- Akukho "khambi" lokudluliselwa kwesifo, ngoba sikhona kuwo wonke amaseli emzimbeni. Kodwa-ke, izifo ezibangelwa yiso zingelashwa.
- Lesi akusona isifo esithelelanayo. Ungaxhumana nabanye abantu, ulale nabo, futhi unikele ngegazi ngaphandle kokwesaba.
- Uma othile emndenini wakho enesifo esibangelwa ufuzo, noma uma unokungabaza noma imibuzo ngalokhu, into engcono kakhulu ongayenza ukubona udokotela wakho noma udokotela bese nixoxa ngakho.
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