I-Chromosomes iqulethe ulwazi lwezofuzo ngohlobo lwamajethi. Inucleus yeseli nganye yesintu, ngaphandle kweqanda nododa, iqukethe ama-chromosomes angama-46, eyenza ama-23 amabini. Elinye i-chromosome kwibini ngalinye livela kumama, elinye lisuka kubaba. Kwimbini yesini, ii-22 zee-23 zezibini ze-chromosomes zifanayo, kuphela i-chromosomes yesibini eseleyo. Abasetyhini bane-X-chromosomes (XX), kunye namadoda kukho enye i-X kunye ne-Y-chromosome (XY). Ngenxa yoko, isethi eqhelekileyo yama-chromosomes (karyotype) yindoda ngu-46, i-XY, kunye ne-female-46, XX.
Chromosomal ezingavumelekanga
Ukuba iphutha livela ngexesha lohlobo oluthile lwesahlulo seseli, apho i-oocyte kunye ne-spermatozoa zenziwa khona, ngoko kuvela ama-cell cell anomfutho, ekhokelela ekuzalweni kwenzala nge-chromosomal pathology. Ukungalingani kwe-Chromosomal kunokubakho ubuninzi kunye nesakhiwo.
Ukuphuhlisa isondo somntwana
Kwiimeko eziqhelekileyo, ubukho be-Y-chromosome bukhokelela ekuphuhlisweni komntwana wesibindi, kungakhathaliseki ukuba inani le-X-chromosomes, kunye nokungabikho kwe-Y-chromosome - ukuphuhliswa kwentombazana yesisu. Iimpawu ze-chromosomes zesini zinefuthe elincinci kwizinto eziphathekayo zomntu (i-phenotype) kunezinto ezingabonakaliyo kwi-autosomal. I-y-chromosome iqulethe inani elincinane leendiza, ngoko ke iikopi zayo ezongezelelweyo zinempembelelo encinci. Bobabini nababhinqa badinga ubukho be-X kuphela ye-chromosome esebenzayo. I-X-chromosomes esongeziweyo isoloko isasebenza ngokupheleleyo. Le ndlela iyancipha umphumo we-X-chromosomes engavumelekanga, kuba iikopi ezingabonakaliyo kwaye zenziwe ngendlela engavumelekanga, zishiya i-chromosome enye eqhelekileyo "isebenza". Nangona kunjalo, kukho ezinye iizakhi kwi-X ye-chromosome ekhusela ukungasebenzi. Kukholelwa ukuba ubukho bokuba enye okanye ngaphezulu ezimbini iikopi zezo jeni ziyimbangela yeziganeko ezingaqhelekanga ezinxulumene nokungalingani kwama-chromosomes esini. Kwi-laboratory, uhlalutyo lwe-chromosome lwenziwe phantsi kwe-microscope elula kwi-1000-fold magnification. Ama-Chromosomes abonakala kuphela xa iseli ihlulwe ngamabini eentombi ezifanayo zofuzo. Ukufumana i-chromosomes, iiseli zegazi zisetyenziselwa ukuba zikhuliswe kwindawo ekhethekileyo enezondlo. Kwinqanaba elithile lokwahlula, iiseli ziphathwa ngeesisombululo esibangela ukuba zivule, ezihamba kunye "nokungabonakali" kunye nokwahlukana kwama-chromosomes. Iiseli zibekwa kwi-slidedidi. Njengoko bome, i-membrane yeseli iyahlukana nokukhutshwa kwama-chromosomes kwindawo yangaphandle. Ama-Chromosomes anemibala ngendlela eya kuthi nganye yazo ibonakale i-discs emnyama kunye neyemnyama (iibhande), umyalelo ocacileyo kwibini nganye. Ubume bama-chromosomes kunye nemeko yeediski zihlolisiswa ngenyameko ukuze zichonge nganye i-chromosome kwaye zichonge iziphumo ezingekho. Iimpazamo ezininzi zenzeke xa kukho ukungabikho okanye ukwedlula kwama-chromosomes. Ezinye i-syndromes eziphuhliswayo ngenxa yeziphoso ezinjalo zibonakaliso ezibonakalayo; abanye bacishe bangabonakali.
Kukho izinto ezine ezingaqhelekanga ze-chromosomal ezine, ezizibandakanya nesifo esithile: 45, i-X-Turner syndrome. 45, X, okanye ukungabikho kwe-chromosome yesibili yesini, iyona karyotype eqhelekileyo kwi-Turner's syndrome. Abantu abane-syndrome banesini lesini; ngokusoloko isifo sifumaneka ngexesha lokuzalwa ngenxa yezinto ezifana nezixhobo ezinjengengxowa emzimbeni emqaleni kwentamo, ukuvuvukala kwezandla kunye neenyawo kunye nesisindo somzimba esezantsi. Ezinye iimpawu ziquka ubude obufutshane, intamo emfutshane kunye neepterygoid folds, isifuba esibanzi kunye neengxowa ezikhoyo, iintsilelo zeentliziyo kunye nokungahambi kakuhle kwe-forearm. Uninzi lwabasetyhini abane-syndrome ye-Turner abayinyumba, abanakho ukuya esikhathini kwaye abazivelisi iimpawu zesini zesibini, ingakumbi izilwanyana ezincinci. Phantse zonke izigulane, nangona kunjalo, zinezinga eliqhelekileyo lokuphuhliswa kwengqondo. Iziganeko ze-Turner syndrome ziphakathi kwe-1: 5000 kunye ne-1:10 000 yabasetyhini.
■ 47, i-XXX-trisomy ye-X-chromosome.
Malunga ne-1 kwabasetyhini aba-1000 banama-karyotype 47, XXX. Abasetyhini abaneli syndrome bahlala bephakame kwaye bancinci, bengabonakali nangokokungaqhelekanga. Nangona kunjalo, bahlala bencipha kwi-intelligence factor kunye neengxaki ezithile zokufunda nokuziphatha. Uninzi lwabasetyhini abane-trisomy X-chromosomes bavelisa kwaye banako ukuba nabantwana abanesigxina se-chromosomes. I-syndrome ayifumaneki ngokukhawuleza ngenxa yobonakaliso obonakele beempawu ze-phenotypic.
■ 47, i-XXY - i-Klinefelter's syndrome. Malunga ne-1 ku-1 000 amadoda ane-Klinefelter syndrome. Amadoda anekaryotype yama-47, i-XXY ibonakala eqhelekileyo ekuzalweni nasekuqaleni kwasebuntwaneni, ngaphandle kweengxaki ezincinane zokufunda nokuziphatha. Iziganeko zibonakaliswa ngexesha lokutshatyalaliswa komntwana kwaye zibandakanya ukukhula okuphezulu, amancinci amancinci, ukungabikho kwe-spermatozoa, kwaye ngamanye amaxesha uphuhliso olunganeleyo lweempawu zesondo zesibini kunye neengqungquthela ezinamathumbu ezincinci.
■ 47, i-XYY-XYY syndrome. I-y chromosome eyongezelelweyo ikhona kwi-1 kumadoda ayi-1 000. Amadoda amaninzi ane-XYY syndrome abukeka eqhelekileyo, kodwa inokukhula kakhulu kunye neqondo eliphantsi lolwazi. Ama-Chromosomes ngokubunjwa afana neleta X kunye neengalo ezimbini ezifutshane kunye ezimbini. Impawu yokuguqula i-Turner syndrome yizinto eziphazamisayo ezilandelayo: i-isochromosome engxeni ende. Ngexesha lokwakheka kwamaqanda okanye i-spermatozoa, ukuhlukana kwama-chromosomes kwenzeka, ngokuphambana nokuhlukana kwe-chromosome kunye namahlombe amabini amade kunye nokungabikho ngokupheleleyo kwama-chromosomes emfutshane kunokubonakala; ikhayeni le-chromosome. Yakhiwe ngenxa yokulahleka kweengcambu zeengalo ezimfutshane kunye nexesha elide ze-x chromosome kunye nokuxhamla kwamacandelo aseleyo ukuya kwindandatho; ukususa (ilahleko) yenxalenye yengalo emfutshane ngenye ye-X i-chromosomes. I-anomalies yengalo ende ye-X chromosome ngokuqhelekileyo ibangela ukungasebenzi kweprogram yokuzala, umzekelo umva wesantya.
Y-chromosome
Umzimba ojongene nophuhliso lombungu wesilisa usekho kwingalo encinane ye-Y chromosome. Ukususwa kwesandla esifutshane kubangela ukubunjwa kwe-phenotype yabesifazane, kaninzi ngezinye iimpawu ze-Turner's syndrome. Izidalwa zeGenesis kwixala elide lijongene nokuzala, ngoko nayiphi na into eyenziwa apha iya kuhamba kunye nokungabikho komntwana.