Ukuguquka Chromosomal: inkcazo emfutshane kunye nokuhlelwa

Lidla amaninzi zifumaneka kwindalo nesenzeko ekuthiwa zofuzo chromosome. Oku kuhambisana utshintsho kubume okanye inani zofuzo kwaye kukhokelela kuphuhliso ngakumbi ezahlukahlukeneyo iziphene emzimbeni. Kwezakhi zofuzo zahlulwe zibe noshowo (kukho utshintsho kubume) kunye yamanani (lubonakala lutshintsho kwenani zofuzo kwigeno- of kwisibini).

zofuzo chromosome kwesakhiwo. Esi sifo, nto leyo inxulunyaniswa komsipha kunye neenxalenye ezibophelelayo koko zofuzo, oko kubange ukuguquka zofuzo ukuqala. Bangakwazi:

- ukulinganisela - kule meko kukho ukunqongophala okanye ngaphaya ngesixhobo yemfuza, ngoko kwiimeko ezininzi bangabonakali. Kodwa ke kukho ingozi enkulu yokosulela kwe-iseti engalungelelananga of genetic material in zizalele.

- ukulinganisela - kulo mzekelo, umntwana ongekazalwa eziliqela ezimbi kakhulu.

Kukho iindlela zilandelayo utshintsho kubume chromosome:

• Ezicinyiweyo - ukuguquka chromosomal ukuba anxulunyaniswa imisonto break chromosomal kunye nelahleko inxalenye yayo ebalulekileyo. Olunjalo utshintsho nemiphumela emibi kakhulu, kwaye kwezinye iimeko ezibulalayo.
• Duplications - zofuzo anxulunyaniswa ukuphinda-kummandla ethile DNA, kungekho kwizifo kakhulu.
• Ukufuduselwa - oluqhutywa phaya lekhefu zofuzo ezimbini ezikufutshane. Ngenxa yoko, le zofuzo ezimbini ukutshintsha iiyunithi zabo, ukwakha iqela elitsha genetic material.
• Insetsii - luphawulwa icandelo wotshintsho le chromosome omnye komnye.
• Inversion - xa zenze yemfuza chromosome isithuba kwenzeka kwiindawo ezimbini ngaxeshanye. Emva koko, inxalenye iqhele phakathi discontinuities, esijikeleziswa malunga axis, ukutshintsha ulandelelwano yemfuza.

zofuzo chromosomal wokwamanani. Njengoko sele kukhankanyiwe, olu hlobo yemfuza zinxulunyaniswa notshintsho inani zofuzo. Ezi ndidi zilandelayo:

• Trisomy - ukuguquka chromosomal, nto leyo sikhatshwa imbonakalo echibini yemfuza ye chromosome elongezelelweyo. Oku kwenzeka ukuba, ngexesha kwisahlulo iseli, ntombi zofuzo aziphikisani. Olunjalo utshintsho ezibangela kunye ukungaqheleki phenotypic. Ezinye trisomies kukhokelela ekufeni ezingekazalwa xa nisaqala yophuhliso lwayo. Izizathu izakhi nangoku cacisa ngokupheleleyo.
• Monosomy - kwezakhi chromosomal esibonakala yi yokuduka chromosome omnye. Kwiimeko ezininzi, ephilayo loo nto inokwenzeka, ngoko ofela nisaqala zophuhliso osandul.
• Poliplodiya - into enqabileyo kakhulu, nto leyo luphawulwa ubukho esiseleni kathathu, kunye iseti maxa wambi kane zofuzo. Ephilayo abakhubazekileyo ezinjalo abayi kukwazi ukuphila - okanye sife phambi kokuzalwa okanye ngoko nangoko emva kwabo.
• utshintsho ngamanani kule zofuzo ngesondo - necacileyo eliqhelekileyo, nto leyo sikhatshwa ukwanda kwenani zofuzo yokugqibela, isibini 23.

ukuguquka Chromosomal: imizekelo

amayeza Modern uyazi amatyala amaninzi abantwana abazelwe abaneziphene chromosomal. Njengoko kuchaziwe ngaphambili, ezinye yemfuza chromosomal ukuba akukho indlela ebonakalayo phezu ilungu lomzimba, yaye ezinye nje awahambelani ukusinda. Kodwa kukho ngeranti ezaziwayo-kakuhle izifo yemfuza, leyo kuvela kanye ngenxa yeenguqu mbandela yemfuza.

Umzekelo, Down syndrome - trisomy 21 iperi zofuzo. Loo kophulwa lukhatshwa iziphene malformations zentliziyo kunye nenkqubo yokujikeleza, kwakunye iifitsha zibe imbonakalo umntu ukukhubazeka engqondweni.

Patau Syndrome - trisomy nge 13 isibini. Ehamba luphuhliso ukophulwa ithambo koloko ko biha, utshintsho imilo lukakayi, polydactyl kwi imilenze okanye iingalo (iminwe ezintandathu), waphula umthetho iinkqubo sentliziyo ethukile.

Turner syndrome - a monosomy 23 (sex) isibini chromosome, nto leyo umbungu wamkela kuphela X chromosome. Aba bantu zophuhliso kade kwenkqubo yenzala, kunye ibinzana buthathaka lweempawu zesini eziziisekondari.