{"id":1698,"date":"2022-07-26T08:14:51","date_gmt":"2022-07-26T08:14:51","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=1698"},"modified":"2023-12-28T19:06:55","modified_gmt":"2023-12-28T19:06:55","slug":"enfermedades-geneticas-en-poblaciones-minoritarias","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/enfermedades-geneticas-en-poblaciones-minoritarias\/","title":{"rendered":"Genetic diseases in minoritary populations."},"content":{"rendered":"\n<p>En nuestro \u00e1mbito geogr\u00e1fico existen dos poblaciones minoritarias que son de inter\u00e9s desde el punto de vista gen\u00e9tico, principalmente por haber practicado hist\u00f3ricamente la <a href=\"https:\/\/es.m.wikipedia.org\/wiki\/Endogamia\">endogamia<\/a> y presentar elevada <a href=\"http:\/\/neuropediaclinic.com\/consanguinidad\/\">consanguinidad<\/a>, y por haber padecido cuellos de botella gen\u00e9ticos que han dado lugar al <a href=\"https:\/\/es.m.wikipedia.org\/wiki\/Efecto_fundador#:~:text=En%20biolog%C3%ADa%2C%20se%20conoce%20como,n%C3%BAmero%20muy%20reducido%20de%20estos.\">efecto fundador<\/a> en algunas enfermedades. <\/p>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-f770ee11\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK583034\/?report=reader\">Poblaci\u00f3n gitana.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li>Enfermedades mendelianas causadas por mutaciones privativas con efecto fundador en la poblaci\u00f3n gitana.<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><td><strong>Disorder<\/strong><\/td><td><strong>OMIM<sup>*<\/sup><\/strong><\/td><td><strong>Inheritance<\/strong><\/td><td><strong>Map<\/strong><\/td><td><strong>Gene<\/strong><\/td><td><strong>Mutation<\/strong><\/td><\/tr><tr><td><\/td><td><\/td><td><\/td><td><strong>Location<\/strong><\/td><td><\/td><td><\/td><\/tr><\/thead><tbody><tr><td>Primary congenital<\/td><td>231300<\/td><td>AR<\/td><td>2p21<\/td><td>CYP1B1<\/td><td>E387K<\/td><\/tr><tr><td>Glaucoma<\/td><td><\/td><td><\/td><td><\/td><td><\/td><td><\/td><\/tr><tr><td>Galactokinase<\/td><td>230200<\/td><td>AR<\/td><td>17q24<\/td><td>GK1<\/td><td>P28T<\/td><\/tr><tr><td>Deficiency<\/td><td><\/td><td><\/td><td><\/td><td><\/td><td><\/td><\/tr><tr><td>Polycystic kidney<\/td><td>173900<\/td><td>AD<\/td><td>4q21-q23<\/td><td>PKD2<\/td><td>R306X<sup>**<\/sup><\/td><\/tr><tr><td>Disease<\/td><td><\/td><td><\/td><td><\/td><td><\/td><td><\/td><\/tr><tr><td>Hereditary motor and<\/td><td>601455<\/td><td>AR<\/td><td>8q24<\/td><td>NDRG1<\/td><td>R148X<\/td><\/tr><tr><td>Sensory neuropathy-Lom<\/td><td><\/td><td><\/td><td><\/td><td><\/td><td><\/td><\/tr><tr><td>Hereditary motor and<\/td><td>605285<\/td><td>AR<\/td><td>10q23<\/td><td><\/td><td><\/td><\/tr><tr><td>Sensory neuropathy-Russe<\/td><td><\/td><td><\/td><td><\/td><td><\/td><td><\/td><\/tr><tr><td>Congenital cataracts facial<\/td><td>604168<\/td><td>AR<\/td><td>18qter<\/td><td><\/td><td><\/td><\/tr><tr><td>dysmorphism neuropathy<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Reported carrier rates for single gene disorders among the Roma<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><td><strong>Disorder<\/strong><\/td><td><strong>Country<\/strong><\/td><td><strong>General<\/strong><\/td><td><strong>High-risk<\/strong><\/td><\/tr><tr><td><\/td><td><\/td><td><strong>Roma<\/strong><\/td><td><strong>groups<\/strong><\/td><\/tr><\/thead><tbody><tr><td>Primary congenital glaucoma<\/td><td>Slovakia<\/td><td>5%<\/td><td>*11%<\/td><\/tr><tr><td>Galactokinase<\/td><td>Bulgaria<\/td><td>2%<\/td><td>*4%-5%<\/td><\/tr><tr><td>Deficiency<\/td><td><\/td><td><\/td><td><\/td><\/tr><tr><td>Autosomal dominant polycystic<\/td><td>Hungary<\/td><td><\/td><td>2.4%<\/td><\/tr><tr><td>kidney disease<\/td><td><\/td><td><\/td><td><\/td><\/tr><tr><td>Hereditary motor and sensory<\/td><td>Bulgaria<\/td><td>*2%<\/td><td>*20%<\/td><\/tr><tr><td>neuropathy-Lom<\/td><td><\/td><td><\/td><td><\/td><\/tr><tr><td>Limb girdle muscular dystrophy<\/td><td>**Bulgaria<\/td><td>2%<\/td><td>6%<\/td><\/tr><tr><td>type 2C<\/td><td><\/td><td><\/td><td><\/td><\/tr><tr><td>MCAD deficiency<\/td><td>***Spain<\/td><td><\/td><td>*2.5%-10%<\/td><\/tr><tr><td>Phenylketonuria<\/td><td>Czecho<\/td><td>6%<\/td><td><\/td><\/tr><tr><td><\/td><td>slovakia<\/td><td><\/td><td><\/td><\/tr><tr><td>Oculocutaneous albinism<\/td><td>Spain<\/td><td>3.4%<\/td><td><\/td><\/tr><tr><td>Fraser syndrome<\/td><td>Spain<\/td><td>2.7%<\/td><td><\/td><\/tr><tr><td>Epidermolysis bullosa<\/td><td>Spain<\/td><td>2.4%<\/td><td><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n<div id=\"zotpress-bfdc73eda0c239c31e282207835a7193\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">332710<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:ANCK8WJG}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE 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ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\t\t\t\t<span class=\"ZP_JSON ZP_ATTR\">%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22ANCK8WJG%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Kalaydjieva%20et%20al.%22%2C%22parsedDate%22%3A%222001-04-02%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BKalaydjieva%20L%2C%20Gresham%20D%2C%20Calafell%20F.%20Genetic%20studies%20of%20the%20Roma%20%28Gypsies%29%3A%20a%20review.%20BMC%20Med%20Genet%20%5BInternet%5D.%202001%20Apr%202%20%5Bcited%202021%20Apr%2011%5D%3B2%3A5.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC31389%5C%2F%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC31389%5C%2F%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Genetic%20studies%20of%20the%20Roma%20%28Gypsies%29%3A%20a%20review%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Luba%22%2C%22lastName%22%3A%22Kalaydjieva%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22David%22%2C%22lastName%22%3A%22Gresham%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Francesc%22%2C%22lastName%22%3A%22Calafell%22%7D%5D%2C%22abstractNote%22%3A%22Background%5CnData%20provided%20by%20the%20social%20sciences%20as%20well%20as%20genetic%20research%20suggest%20that%20the%208-10%20million%20Roma%20%28Gypsies%29%20who%20live%20in%20Europe%20today%20are%20best%20described%20as%20a%20conglomerate%20of%20genetically%20isolated%20founder%20populations.%20The%20relationship%20between%20the%20traditional%20social%20structure%20observed%20by%20the%20Roma%2C%20where%20the%20Group%20is%20the%20primary%20unit%2C%20and%20the%20boundaries%2C%20demographic%20history%20and%20biological%20relatedness%20of%20the%20diverse%20founder%20populations%20appears%20complex%20and%20has%20not%20been%20addressed%20by%20population%20genetic%20studies.%5Cn%5CnResults%5CnRecent%20medical%20genetic%20research%20has%20identified%20a%20number%20of%20novel%2C%20or%20previously%20known%20but%20rare%20conditions%2C%20caused%20by%20private%20founder%20mutations.%20A%20summary%20of%20the%20findings%2C%20provided%20in%20this%20review%2C%20should%20assist%20diagnosis%20and%20counselling%20in%20affected%20families%2C%20and%20promote%20future%20collaborative%20research.%20The%20available%20incomplete%20epidemiological%20data%20suggest%20a%20non-random%20distribution%20of%20disease-causing%20mutations%20among%20Romani%20groups.%5Cn%5CnConclusion%5CnAlthough%20far%20from%20systematic%2C%20the%20published%20information%20indicates%20that%20medical%20genetics%20has%20an%20important%20role%20to%20play%20in%20improving%20the%20health%20of%20this%20underprivileged%20and%20forgotten%20people%20of%20Europe.%20Reported%20carrier%20rates%20for%20some%20Mendelian%20disorders%20are%20in%20the%20range%20of%205%20-15%25%2C%20sufficient%20to%20justify%20newborn%20screening%20and%20early%20treatment%2C%20or%20community-based%20education%20and%20carrier%20testing%20programs%20for%20disorders%20where%20no%20therapy%20is%20currently%20available.%20To%20be%20most%20productive%2C%20future%20studies%20of%20the%20epidemiology%20of%20single%20gene%20disorders%20should%20take%20social%20organisation%20and%20cultural%20anthropology%20into%20consideration%2C%20thus%20allowing%20the%20targeting%20of%20public%20health%20programs%20and%20contributing%20to%20the%20understanding%20of%20population%20structure%20and%20demographic%20history%20of%20the%20Roma.%22%2C%22date%22%3A%222001-4-2%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1186%5C%2F1471-2350-2-5%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC31389%5C%2F%22%2C%22PMID%22%3A%2211299048%22%2C%22PMCID%22%3A%22PMC31389%22%2C%22ISSN%22%3A%221471-2350%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22PPC7IL9U%22%5D%2C%22dateModified%22%3A%222025-09-04T16%3A48%3A17Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t<div id=\"zp-ID-1698-332710-ANCK8WJG\" data-zp-author-date='Kalaydjieva-et-al.-2001-04-02' data-zp-date-author='2001-04-02-Kalaydjieva-et-al.' data-zp-date='2001-04-02' data-zp-year='2001' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Kalaydjieva L, Gresham D, Calafell F. Genetic studies of the Roma (Gypsies): a review. BMC Med Genet [Internet]. 2001 Apr 2 [cited 2021 Apr 11];2:5. Available from: <a class='zp-ItemURL' href='https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC31389\/'>https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC31389\/<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n\n\n\n<p>Adem\u00e1s de los cuadros anteriores, tambi\u00e9n hay descrita una forma de<strong> miastenia cong\u00e9nita<\/strong> que es m\u00e1s frecuente en la poblaci\u00f3n gitana que en la poblaci\u00f3n general, en particular la mutaci\u00f3n epsilon1267delG en el gen de la subunidad epsilon del receptor de acetilcolina (AChR). <\/p>\n\n\n<div id=\"zotpress-10170ffb7d268a64021e1c640c510358\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">332710<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:VGNJRAMR}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID 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id=\"zp-ID-1698-332710-VGNJRAMR\" data-zp-author-date='Abicht-et-al.-1999-10-22' data-zp-date-author='1999-10-22-Abicht-et-al.' data-zp-date='1999-10-22' data-zp-year='1999' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horv\u00e1th R, Mortier W, et al. A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology. 1999 Oct 22;53(7):1564\u20139.<\/div>\n   <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n\n\n\n<p><\/p>\n<\/div><\/details>\n<\/div>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-9450da35\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Poblaci\u00f3n norteafricana.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"http:\/\/mgdd.pasteur.ma\/\">The Moroccan Genetic Disease Database.<\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"640\" height=\"452\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-27.png\" alt=\"\" class=\"wp-image-3490\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-27.png 640w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-27-300x212.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-27-18x12.png 18w\" sizes=\"(max-width: 640px) 100vw, 640px\" \/><\/figure>\n<\/div><\/details>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>En nuestro \u00e1mbito geogr\u00e1fico existen dos poblaciones minoritarias que son de inter\u00e9s desde el punto de vista gen\u00e9tico, principalmente por haber practicado hist\u00f3ricamente la endogamia y presentar elevada consanguinidad, y por haber padecido cuellos de botella gen\u00e9ticos que han dado lugar al efecto fundador en algunas enfermedades.<\/p>","protected":false},"author":1,"featured_media":2288,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-1698","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/1698","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=1698"}],"version-history":[{"count":1,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/1698\/revisions"}],"predecessor-version":[{"id":6899,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/1698\/revisions\/6899"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2288"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=1698"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=1698"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=1698"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}