{"id":1698,"date":"2022-07-26T08:14:51","date_gmt":"2022-07-26T08:14:51","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=1698"},"modified":"2026-06-22T20:07:40","modified_gmt":"2026-06-22T20:07:40","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=\"https:\/\/neuropediatoolkit.org\/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-6b8e0a8ea407b178e5d14830fd43a48c\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{19955111:H68EFK34}<\/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%22H68EFK34%22%2C%22library%22%3A%7B%22id%22%3A19955111%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%22XF3FMYL5%22%5D%2C%22dateModified%22%3A%222026-05-09T21%3A48%3A27Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t<div id=\"zp-ID-1698-19955111-H68EFK34\" 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-3ce5571ad2e82aec8d445809d287b476\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{19955111:WKU6TKTJ}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID 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id=\"zp-ID-1698-19955111-WKU6TKTJ\" 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=\"https:\/\/neuropediatoolkit.org\/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>In our geographical area there are two minority populations that are of interest from a genetic point of view, mainly because they have historically practiced endogamy and show high consanguinity, and because they have experienced genetic bottlenecks that have given rise to the founder effect in some diseases.<\/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":4,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/1698\/revisions"}],"predecessor-version":[{"id":8477,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/1698\/revisions\/8477"}],"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}]}}