Chromosomes sun ƙunshi bayanin kwayoyin a cikin nau'in kwayoyin halitta. Ciwon kwayar halitta na kowane ɗan adam, banda kwai da sperm, ya ƙunshi 46 chromosomes, hade da nau'i nau'i 23. Ɗaya daga cikin samfurori a kowannensu an samo daga uwarsa, ɗayan kuma daga mahaifinsa. A cikin jinsi biyu, 22 daga cikin 23 nau'i na chromosomes sun kasance iri ɗaya, amma sauran nau'in jima'i na chromosomes ya bambanta. Mata suna da X-chromosomes biyu (XX), kuma a cikin maza akwai X- da daya Y-chromosome (XY). A sakamakon haka, tsari na al'ada na chromosomes (karyotype) na namiji shine 46, XY, da mace - 46, XX.
Abnormalities na Chromosomal
Idan kuskure ya auku a lokacin wani nau'i na ƙungiyar tantance kwayoyin halitta, wanda aka kafa magizai da spermatozoa, to, kwayoyin kwayoyin halitta ba su tashi, wanda zai haifar da haihuwar zuriya tare da maganin cututtuka na chromosomal. Cikakkewar Chromosomal na iya zama duka da mahimmanci.
Ƙaddamar da jima'i na yaron
A karkashin yanayi na al'ada, kasancewar y-chromosome yana haifar da cigaban namiji tayin, ko da kuwa yawancin X-chromosomes, da kuma rashin Y-chromosome - don ci gaba da tayin mata. Abubuwa na jima'i na chromosomes suna da mummunar tasiri a kan yanayin jiki na mutum (phenotype) fiye da cututtuka na 'yan autosomal. Y-chromosome ya ƙunshi ƙananan kwayoyin halitta, saboda haka karin takaddun suna da tasiri kadan. Dukansu maza da mata suna buƙatar kasancewa daya daga cikin ƙwayoyin X ne kawai. X-chromosomes mai wuce haddi kusan kusan gaba ɗaya suna aiki. Wannan injin yana rage yawan nau'in X-chromosomes mai mahimmanci, tun da kullun magungunan da ba su da mahimmanci ba su da kyau, suna barin kawai X "chromosome" na al'ada "aiki". Duk da haka, akwai wasu kwayoyin a kan X chromosome da ke kauce wa rashin aiki. An yi imanin cewa kasancewar daya ko fiye da biyu kofe na irin kwayoyin halitta shine dalilin hadarin abubuwan da ke tattare da rashin daidaituwa na chromosomes na jima'i. A cikin dakin gwaje-gwaje, ana gudanar da bincike na chromosome a karkashin wani ƙananan microscope a madaukaki 1000. Chromosomes zasu zama bayyane ne kawai lokacin da tantanin halitta ya kasu kashi biyu na 'yan' yarin halitta. Don samo chromosomes, ana amfani da kwayoyin jini wanda aka saba da su a matsakaici na musamman a cikin abubuwan gina jiki. A wasu lokuta na rarraba, ana kula da kwayoyin da maganin da zai sa su kara, wanda yake tare da "ɓarna" da rabuwa da chromosomes. Ana sanya sassan a kan zane-zanen microscope. Yayin da suka bushe, ƙwayar tantanin halitta ta rushe tare da sakin chromosomes cikin yanayin waje. Kwayoyin chromosomes suna canza launin su a cikin hanyar da kowanne daga cikinsu ya fito da hasken haske da duhu (strips), wanda tsari shine ƙayyadaddun ga kowannensu. Halin siffofin chromosomes da nau'in fayafai ana nazari da hankali don gano kowane chromosome kuma gano yiwuwar anomalies. Abubuwa masu yawa suna faruwa a lokacin da akwai rashin haushi ko ƙananan chromosomes. Wasu cututtuka da suka haifar da sakamakon irin wadannan lahani suna da alamun bayyanannu; wasu ba su da ganuwa.
Akwai manyan abubuwa masu yawa na nakasar chromosomal, wanda kowannensu ya haɗu da wani ciwo: 45, X - Turner syndrome. 45, X, ko kuma rashin jima'i na biyu jima'i, shine mafi yawan karyotype a cikin ciwo na Turner. Mutanen da ke fama da wannan ciwo suna da jinsi na mace; sau da yawa cutar ta bincikar a lokacin haihuwar saboda irin waɗannan siffofi kamar launi na fata a bayan wuyansa, kumburi da hannu da ƙarancin jiki. Wasu bayyanar cututtuka sun haɗa da raguwa, ƙananan wuyansa tare da rikice-rikice masu rikice-rikice, ƙwararriya mai mahimmanci tare da ƙuƙwalwar ƙuƙwalwa, ɓarna na zuciya da rikice-rikice masu ban tsoro. Yawancin matan da ke fama da cutar na Turner ba su da lafiya, ba su da haila kuma ba su haɓaka halayen jima'i na musamman, musamman mamaye mammary. Kusan duk marasa lafiya, duk da haka, suna da ci gaban al'ada. Halin cutar Turner yana tsakanin 1: 5000 da 1:10 000 mata.
∎ 47, XXX - kwakwalwa na X chromosome.
Kimanin 1 a 1000 mata yana da karyotype 47, XXX. Mata da wannan ciwo suna da yawa kuma suna da zurfi, ba tare da wani mummunan abu na jiki ba. Duk da haka, sau da yawa suna da raguwa a cikin ƙididdigar hankali tare da wasu matsaloli a koyo da halayyar. Yawancin matan da ke da ƙwayoyin X-chromosomes suna da kyau kuma suna iya samun yara tare da tsari na chromosomes. Ba'a iya samun ciwon ciwo ba saboda mummunan bayyanuwar siffofin siffofi na phenotypic.
47, XXY - Klinefelter ta ciwo. Kimanin 1 a cikin mutane 1,000 suna da ciwo na Klinefelter. Maza da karyotype na 47, XXY suna kallon al'ada a lokacin haihuwar da kuma a ƙuruciyar yara, ban da ƙananan matsaloli a koyo da kuma hali. Alamar alamu sun zama sananne a lokacin balaga kuma sun hada da girma girma, ƙananan ƙwayoyin cuta, rashin spermatozoa, kuma wani lokacin rashin ci gaba na halayen jima'i na biyu tare da kara girma mammary.
∎ 47, XYY - XYY ciwo. Wani ƙarin yuwuwar Y yana samuwa a cikin kimanin 1 a cikin 1,000 maza. Yawancin mutanen da ke fama da ciwon XYY suna kallon al'ada, amma suna da matukar girma da rashin fahimtar hankali. Kwayoyin Chromosomes suna kama da wasikar X kuma suna da makamai guda biyu da biyu. Magungunan ciwo na Turner sune abubuwan da ke faruwa a gaba: mai zuwa ne a cikin dogon lokaci. A lokacin da aka samu qwai ko spermatozoa, rabuwa da chromosomes na faruwa, a takaice da bambancin da aka yi da chromosome tare da kafa biyu na tsayi da kuma rashin cikakkiyar gajeren ƙananan chromosomes na iya bayyana; kyamarar zobe. An kafa shi ne saboda asarar iyakar gajeren gajere da kuma dogon makamai na X chromosome da kuma haɗawa da sauran sassan zuwa zobe; sharewa (asarar) wani ɓangare na gajeren hannu ta daya daga cikin X chromosomes. Abubuwa na dogon ƙarfin X-chromosome yakan haifar dysfunction na tsarin haihuwa, misali misalin mazauni.
Y-chromosome
Ginin da ke da alhakin ci gaba da amfrayo na namiji yana samuwa ne a kan gajeren yatsan Y. Share daga cikin gajeren hannu yana kai ga samuwar mace phenotype, sau da yawa tare da wasu alamu na ciwo na Turner. Maza a kan dogon kafada suna da alhakin haihuwa, don haka duk wani cirewa a nan yana iya zama tare da namiji mara haihuwa.