{"id":426206,"date":"2022-01-14T14:28:00","date_gmt":"2022-01-14T11:28:00","guid":{"rendered":"http:\/\/arantv.az\/?p=426206"},"modified":"2022-01-14T14:28:00","modified_gmt":"2022-01-14T11:28:00","slug":"az%c9%99rbaycanda-qohum-evliliyind%c9%99n-yeni-genetik-mutasiya-askarlandi","status":"publish","type":"post","link":"https:\/\/arantv.az\/?p=426206","title":{"rendered":"Az\u0259rbaycanda qohum evliliyind\u0259n yeni genetik mutasiya a\u015fkarland\u0131"},"content":{"rendered":"<div><b>Bioloji T\u0259bab\u0259t Klinikas\u0131n\u0131n n\u0259zdind\u0259 olan Afgen Genetik Diaqnoz M\u0259rk\u0259zinin n\u00f6vb\u0259ti u\u011furu olan Bardet Biedl sindromu tip 6 il\u0259 \u0259laq\u0259li daha \u0259vv\u0259l klinik \u0259d\u0259biyata daxil olmam\u0131\u015f yeni mutasiyadan s\u00f6z a\u00e7aca\u011f\u0131q. Pasiyentl\u0259rin h\u0259m genetik konsultasiyas\u0131n\u0131, h\u0259m d\u0259 biyoinformatik data analizl\u0259rini h\u0259yata ke\u00e7ird\u0259n \u0130stanbul Universitetinin m\u0259zunu, genetik-m\u00fct\u0259x\u0259ssis \u0130lah\u0259 Musayevan\u0131n t\u0259qdimat\u0131nda h\u0259min ail\u0259 hekay\u0259sini t\u0259qdim edirik.<\/b><\/div>\n<p>&nbsp;<\/p>\n<p><strong>ARANTV.AZ<\/strong> x\u0259b\u0259r verir ki, Bardet Biedl sindromu (BBS)- retinal distrofiya, piyl\u0259nm\u0259, polidaktiliya, b\u00f6yr\u0259k anomaliyalar\u0131, \u0259qli gerilik v\u0259 hipogonadizm il\u0259 xarakteriz\u0259 olunan, bir s\u00f6zl\u0259 bir \u00e7ox orqan sistemin\u0259 t\u0259sir ed\u0259n nadir genetik sindromdur. BBS b\u00f6y\u00fck sinfi \u0259hat\u0259 ed\u0259n multisistemik genetik sindromdur. Bunlardan biri BBS6 olaraq da bilin\u0259n, Bardet Biedl sindromu tip 6-d\u0131r.<\/p>\n<p>Bu tip ad\u0259t\u0259n, a\u011f\u0131r piqmentar retinopatiya, erk\u0259n ya\u015fda ba\u015flayan piyl\u0259nm\u0259, polidaktiliya, hipogenitalizm, b\u00f6yr\u0259k malformasiyas\u0131, \u0259qli gerilik v\u0259 sonrak\u0131 m\u0259rh\u0259l\u0259l\u0259rind\u0259 is\u0259 \u015f\u0259k\u0259rli diabet, hipertoniya v\u0259 anadang\u0259lm\u0259 \u00fcr\u0259k q\u00fcsurlar\u0131 kimi simptomlar il\u0259 xarakteriz\u0259 olunur.<\/p>\n<p>BBS sindromu \u0259sas\u0259n autozomal ressesiv irsiyy\u0259t tipin\u0259 aiddir. Bardet Biedl sindromu \u0259n az\u0131 14 m\u00fcxt\u0259lif gend\u0259 olan mutasiyalar n\u0259tic\u0259sind\u0259 meydana \u00e7\u0131x\u0131r. Bu genl\u0259r\u0259 b\u0259z\u0259n BBS genl\u0259ri d\u0259 deyilir. BBS6 il\u0259 \u0259laq\u0259li m\u00fchim gen is\u0259 MKKS-dir.<\/p>\n<div class=\"inlineads\"><\/div>\n<p><b>Pasiyent haqq\u0131nda m\u0259lumat:<\/b><\/p>\n<p>Qohum evliliyi etmi\u015f ail\u0259 Afgen Genetik Diaqnoz M\u0259rk\u0259zin\u0259 genetik konsultasiya \u00fc\u00e7\u00fcn yax\u0131nla\u015fd\u0131\u011f\u0131nda Polidaktiliya, b\u00f6yr\u0259kl\u0259rd\u0259 konjenital polikistoz v\u0259ziyy\u0259ti, obezite, retinitis pigmentoza kimi klinik \u015fikay\u0259tl\u0259r\u0259 sahib 9 ya\u015f\u0131nda o\u011flan u\u015fa\u011f\u0131n\u0131n diaqnozunu d\u0259qiql\u0259\u015fdirm\u0259k ist\u0259yirdi.<\/p>\n<p>Differensial diaqnostika v\u0259 d\u0259qiq diaqnoz m\u0259qs\u0259dil\u0259 pasiyent\u0259 WES (b\u00fct\u00fcn ekzom sekanslama) analizinin edilm\u0259si t\u00f6vsiy\u0259 edildi.<\/p>\n<p>Pasiyentin WES datas\u0131 d\u0259qiq biyoinformatik analiz programlar\u0131 vasit\u0259si il\u0259 genetik m\u00fct\u0259x\u0259ssisimiz Ilah\u0259 Musayeva t\u0259r\u0259find\u0259n inc\u0259l\u0259ndikd\u0259n sonra MKKS genind\u0259 klinik olaraq tan\u0131ml\u0131 olmayan, ancaq patojenik olma ehtimal\u0131 olan patojenik varyant homozigot v\u0259ziyy\u0259td\u0259 a\u015fkarland\u0131.<\/p>\n<p>B\u0259hsi ke\u00e7\u0259n mutasiya \u00f6n klinik diaqnoz il\u0259 \u0259laq\u0259li olaraq, autozomal resesiv irsiyy\u0259t tipin\u0259 sahib olan Bardet-Biedl tip 6 sindromu il\u0259 \u0259laq\u0259lidir. X\u0259st\u0259liy\u0259 MKKS genind\u0259ki homozigot v\u0259ya kompound heterozigot mutasiyalar s\u0259b\u0259b olmaqdad\u0131r. B\u0259hsi ke\u00e7\u0259n varyant \u00fc\u00e7\u00fcn ata v\u0259 anada ko-segregasiya analizi edildikd\u0259n sonra m\u0259lum oldu ki h\u0259min mutasiya ata v\u0259 anada heterozigot v\u0259ziyy\u0259td\u0259dir.<\/p>\n<p>Ail\u0259y\u0259 d\u00fczg\u00fcn genetik dan\u0131\u015fma v\u0259 prenatal diaqnostika haqq\u0131nda m\u0259lumat verildi. Bu \u00e7al\u0131\u015fman\u0131n tibb al\u0259mi \u00fc\u00e7\u00fcn d\u0259y\u0259rli olmas\u0131n\u0131n s\u0259b\u0259bi h\u0259m sindromun bu tipinin olduqca nadir olmas\u0131, h\u0259m d\u0259 a\u015fkarlanan mutasiyan\u0131n daha \u00f6nc\u0259 klinik \u0259d\u0259biyyatda yer almam\u0131\u015f olmas\u0131d\u0131r.<\/p>\n<div><\/div>\n<div><img src=\"https:\/\/www.medicina.az\/uploads\/images\/2022-01-14-14-31-353onxaeLEoFNEnxniLzC5_file.jpeg\" data-filename=\"\" \/><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Bioloji T\u0259bab\u0259t Klinikas\u0131n\u0131n n\u0259zdind\u0259 olan Afgen Genetik Diaqnoz M\u0259rk\u0259zinin n\u00f6vb\u0259ti u\u011furu olan Bardet Biedl sindromu tip 6 il\u0259 \u0259laq\u0259li daha \u0259vv\u0259l klinik \u0259d\u0259biyata daxil olmam\u0131\u015f yeni mutasiyadan s\u00f6z a\u00e7aca\u011f\u0131q. Pasiyentl\u0259rin h\u0259m genetik konsultasiyas\u0131n\u0131, h\u0259m d\u0259 biyoinformatik data analizl\u0259rini h\u0259yata ke\u00e7ird\u0259n \u0130stanbul Universitetinin m\u0259zunu, genetik-m\u00fct\u0259x\u0259ssis \u0130lah\u0259 Musayevan\u0131n t\u0259qdimat\u0131nda h\u0259min ail\u0259 hekay\u0259sini t\u0259qdim edirik. &nbsp; ARANTV.AZ x\u0259b\u0259r verir ki, Bardet Biedl sindromu (BBS)- retinal distrofiya, piyl\u0259nm\u0259, polidaktiliya, b\u00f6yr\u0259k anomaliyalar\u0131, \u0259qli gerilik v\u0259 hipogonadizm il\u0259 xarakteriz\u0259 olunan, bir s\u00f6zl\u0259 bir \u00e7ox orqan sistemin\u0259 t\u0259sir ed\u0259n nadir genetik sindromdur. BBS b\u00f6y\u00fck sinfi \u0259hat\u0259 ed\u0259n&hellip;<\/p>\n","protected":false},"author":2,"featured_media":426207,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0},"categories":[26],"tags":[],"aioseo_notices":[],"gutentor_comment":0,"rttpg_featured_image_url":{"full":["https:\/\/arantv.az\/wp-content\/uploads\/2022\/01\/2022-01-14-14-34-40r8yR8EBKlQZXwWhs8Jp6_file.jpg",400,353,false],"landscape":["https:\/\/arantv.az\/wp-content\/uploads\/2022\/01\/2022-01-14-14-34-40r8yR8EBKlQZXwWhs8Jp6_file.jpg",400,353,false],"portraits":["https:\/\/arantv.az\/wp-content\/uploads\/2022\/01\/2022-01-14-14-34-40r8yR8EBKlQZXwWhs8Jp6_file.jpg",400,353,false],"thumbnail":["https:\/\/arantv.az\/wp-content\/uploads\/2022\/01\/2022-01-14-14-34-40r8yR8EBKlQZXwWhs8Jp6_file-400x280.jpg",400,280,true],"medium":["https:\/\/arantv.az\/wp-content\/uploads\/2022\/01\/2022-01-14-14-34-40r8yR8EBKlQZXwWhs8Jp6_file.jpg",400,353,false],"large":["https:\/\/arantv.az\/wp-content\/uploads\/2022\/01\/2022-01-14-14-34-40r8yR8EBKlQZXwWhs8Jp6_file.jpg",400,353,false],"1536x1536":["https:\/\/arantv.az\/wp-content\/uploads\/2022\/01\/2022-01-14-14-34-40r8yR8EBKlQZXwWhs8Jp6_file.jpg",400,353,false],"2048x2048":["https:\/\/arantv.az\/wp-content\/uploads\/2022\/01\/2022-01-14-14-34-40r8yR8EBKlQZXwWhs8Jp6_file.jpg",400,353,false],"post-thumbnail":["https:\/\/arantv.az\/wp-content\/uploads\/2022\/01\/2022-01-14-14-34-40r8yR8EBKlQZXwWhs8Jp6_file-240x172.jpg",240,172,true],"advps-thumb-one":["https:\/\/arantv.az\/wp-content\/uploads\/2022\/01\/2022-01-14-14-34-40r8yR8EBKlQZXwWhs8Jp6_file.jpg",400,353,false]},"rttpg_author":{"display_name":"V\u00fcsal Rafiqo\u011flu","author_link":"https:\/\/arantv.az\/?author=2"},"rttpg_comment":0,"rttpg_category":"<a href=\"https:\/\/arantv.az\/?cat=26\" rel=\"category\">Sosial<\/a>","rttpg_excerpt":"Bioloji T\u0259bab\u0259t Klinikas\u0131n\u0131n n\u0259zdind\u0259 olan Afgen Genetik Diaqnoz M\u0259rk\u0259zinin n\u00f6vb\u0259ti u\u011furu olan Bardet Biedl sindromu tip 6 il\u0259 \u0259laq\u0259li daha \u0259vv\u0259l klinik \u0259d\u0259biyata daxil olmam\u0131\u015f yeni mutasiyadan s\u00f6z a\u00e7aca\u011f\u0131q. Pasiyentl\u0259rin h\u0259m genetik konsultasiyas\u0131n\u0131, h\u0259m d\u0259 biyoinformatik data analizl\u0259rini h\u0259yata ke\u00e7ird\u0259n \u0130stanbul Universitetinin m\u0259zunu, genetik-m\u00fct\u0259x\u0259ssis \u0130lah\u0259 Musayevan\u0131n t\u0259qdimat\u0131nda h\u0259min ail\u0259 hekay\u0259sini t\u0259qdim edirik. &nbsp; ARANTV.AZ x\u0259b\u0259r&hellip;","_links":{"self":[{"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/posts\/426206"}],"collection":[{"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/arantv.az\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=426206"}],"version-history":[{"count":0,"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/posts\/426206\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/arantv.az\/index.php?rest_route=\/wp\/v2\/media\/426207"}],"wp:attachment":[{"href":"https:\/\/arantv.az\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=426206"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/arantv.az\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=426206"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/arantv.az\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=426206"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}