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Ciwon Kwayoyin Halitta

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Ciwon Kwayoyin Halitta
Description (en) Fassara
Iri hereditary disorder (en) Fassara
cuta
Specialty (en) Fassara medical genetics (en) Fassara
Sanadi germline mutation (en) Fassara
pathology (en) Fassara
Age of onset (en) Fassara any age (en) Fassara
Identifier (en) Fassara
ICD-9-CM 799.89
MeSH D030342
Disease Ontology ID DOID:630
Jadawalin da ke nuna misalan cutar da ke kan kowane chromosome
BBS Organs
Angio MR

Ciwon kwayoyin halitta matsala ce ta kiwon lafiya ta hanyar daya ko fiye da rashin daidaituwa a cikin kwayoyin halitta . Ana iya haifar da shi ta hanyar maye gurbi a cikin kwayar halitta guda daya (monogenic) ko wasu kwayoyin halitta masu yawa (polygenic) ko ta rashin daidaituwa na chromosomal . Ko da yake cututtukan polygenic sun fi na kowa, ana amfani da kalmar mafi yawa lokacin da ake magana da cuta tare da dalili guda ɗaya, ko dai a cikin kwayar halitta ko chromosome .[1][2] Maye gurbin da ke da alhakin zai iya faruwa ba da jimawa ba kafin haɓakar amfrayo (a de novo maye gurbi), ko kuma ana iya gadonsa daga iyaye biyu waɗanda suke ɗauke da ƙwayar cuta mara kyau ( autosomal recessive inheritance ) ko kuma daga iyaye masu fama da cuta ( autosomal rinjaye gado). Lokacin da cutar ta gado ta gado ɗaya ko duka biyun, ana kuma rarraba ta azaman cuta ta gado. Wasu cututtuka ana haifar da su ta hanyar maye gurbi a kan X chromosome kuma suna da gado mai alaƙa da X. Cututtuka kaɗan ne ake gado akan Y-chromosome ko DNA mitochondrial (saboda girmansu).[3]

Akwai sanannun cututtukan ƙwayoyin cuta sama da 6,000,[4] kuma ana bayyana sabbin cututtukan ƙwayoyin cuta koyaushe a cikin littattafan likitanci.[5] Fiye da cututtukan kwayoyin halitta 600 ana iya magance su.[6] Kusan 1 a cikin 50 mutane suna fama da sanannen rashin lafiya-kwayoyin halitta, yayin da kusan 1 cikin 263 ke fama da cutar chromosomal .[7] Kusan kashi 65% na mutane suna da wata irin matsalar lafiya sakamakon maye gurbi na haihuwa.[7] Saboda babban adadin cututtukan kwayoyin halitta, kusan 1 cikin mutane 21 suna fama da cutar ta kwayoyin halitta da aka rarraba a matsayin " rauni " (wanda aka fi sani da yana shafar ƙasa da 1 cikin mutane 2,000). Yawancin cututtuka na kwayoyin halitta ba su da yawa a kansu.[5][8]

Ciwon kwayoyin halitta yana samuwa kafin haihuwa, kuma wasu cututtuka na kwayoyin halitta suna haifar da lahani na haihuwa, amma kuma nakasa na iya zama ci gaba maimakon gado . Kishiyar cuta ta gado cuta ce da aka samu . Yawancin ciwon daji, ko da yake sun haɗa da maye gurbin kwayoyin halitta zuwa ƙaramin adadin sel a cikin jiki, an samu cututtuka. Wasu cututtukan ciwon daji, duk da haka, irin su maye gurbi na BRCA cututtukan gado ne na gado.[9]

Single-gene

[gyara sashe | gyara masomin]
Yawaitar wasu cututtuka guda ɗaya[10]
Yaɗuwar cuta (kimanin)
Autosomal rinjaye
Familial hypercholesterolemia 1 cikin 500 [11]
Neurofibromatosis irin I 1 cikin 2,500
spherocytosis na gado 1 cikin 5,000
Marfan ciwo 1 cikin 4,000
Cutar Huntington 1 cikin 15,000
Autosomal recessive
Sickle cell anemia 1 cikin 625
Cystic fibrosis 1 cikin 2,000
Tay-Sachs cuta 1 cikin 3,000
Phenylketonuria 1 cikin 12,000
Autosomal recessive polycystic koda cuta 1 cikin 20,000
Mucopolysaccharides 1 cikin 25,000
Lysosomal acid rashi lipase 1 cikin 40,000
Cututtukan ajiya na glycogen 1 cikin 50,000
Galactosemia 1 cikin 57,000
X-haɗe-haɗe
Duchenne muscular dystrophy 1 cikin 5,000
Hemophilia 1 cikin 10,000
Ƙimar ga jarirai masu rai

Ciwon kwayar halitta guda daya (ko rashin lafiya na monoogenic ) shine sakamakon maye gurbi guda daya. Za'a iya yada cutar ta kwayar halitta guda ɗaya zuwa tsararraki masu zuwa ta hanyoyi da yawa. Bugawa na al'ada da rashin aikin yi, duk da haka, na iya shafar tsarin gado. Rabe-raben da ke tsakanin nau'ikan koma-baya da masu rinjaye ba "masu wahala ba ne", ko da yake rarrabuwa tsakanin nau'ikan autosomal da nau'ikan X sun kasance (tunda nau'ikan na ƙarshe an bambanta su zalla bisa ga yanayin chromosomal na kwayar halitta). Alal misali, nau'i na dwarfism na kowa, achondroplasia, yawanci ana la'akari da rashin lafiya mai mahimmanci, amma yara masu kwayoyin halitta guda biyu don achondroplasia suna da mummunar cuta mai tsanani kuma yawanci mai kisa, wanda achondroplasics za a iya la'akari da masu ɗaukar hoto. Sickle cell anemia kuma ana la'akari da yanayin koma baya, amma masu ɗaukar heterozygous sun ƙara juriya ga zazzabin cizon sauro a farkon ƙuruciya, wanda za'a iya kwatanta shi a matsayin yanayin da ya fi girma.[12] Lokacin da ma'auratan da ɗaya ko duka biyu ke fama da cutar ko kuma masu ɗauke da kwayar cutar kwayar halitta guda ɗaya suna son haifuwa, za su iya yin hakan ta hanyar hadi a cikin vitro, wanda ke ba da damar tantance ƙwayoyin halittar preimplantation don bincika ko tayin yana da cutar ta kwayoyin halitta.[13]

Yawancin rikice-rikice na rayuwa na haihuwa da aka sani da kurakuran haifuwa na metabolism suna haifar da lahani guda ɗaya. Yawancin irin waɗannan lahani guda ɗaya na iya rage dacewar mutanen da abin ya shafa kuma saboda haka suna cikin yawan jama'a a ƙananan mitoci idan aka kwatanta da abin da za a sa ran bisa ƙididdige ƙididdiga masu sauƙi.[14]

Autosomal rinjaye

[gyara sashe | gyara masomin]

Kwafi guda daya kawai da aka canza na kwayar halitta zai zama dole don mutum ya shafe shi ta hanyar rashin lafiyar da ta mamaye. Kowane mutumin da abin ya shafa yawanci yana da iyaye ɗaya da abin ya shafa.[15] :57Damar da yaro zai gaji maye gurbi shine kashi 50%. Yawancin yanayi na autosomal wasu lokuta sun rage shiga cikin jiki, wanda ke nufin ko da yake ana buƙatar kwafi ɗaya kawai, ba duk mutanen da suka gaji wannan maye gurbin suna ci gaba da haɓaka cutar ba. Misalan irin wannan cuta sune cutar Huntington,[15] :58neurofibromatosis nau'in 1, neurofibromatosis type 2, Marfan ciwo, hereditary nonpolyposis colorectal ciwon daji, hereditary mahara exostoses (wani sosai shiga autosomal rinjaye cuta), tuberous sclerosis, Von Willebrand cuta, da kuma m intermittent porphyria . Ana kuma kiran lahanin haihuwa.

Autosomal recessive

[gyara sashe | gyara masomin]

Dole ne a canza kwafi biyu na kwayar halitta don mutum ya shafa ta hanyar rashin bacci. Mutumin da abin ya shafa yawanci yana da iyayen da ba su shafa ba waɗanda kowannensu ke ɗauke da kwafin kwayar halittar da ta canza kuma ana kiranta da masu ɗaukar kwayoyin halitta . Kowane iyaye da ke da lahani na kwayoyin halitta yawanci ba su da alamun cutar.[16] Mutane biyu da ba su kamu da cutar ba wadanda kowannensu ke dauke da kwafin kwayar halittar da aka canza suna da hadarin kashi 25% tare da kowane ciki na haihuwa da cutar ta shafa. Misalan irin wannan cuta sune albinism, matsakaicin sarkar acyl-CoA dehydrogenase rashi, cystic fibrosis, sikila cell cuta, Tay-Sachs cuta, Niemann-Pick cuta, spinal muscular atrophy, da kuma Roberts ciwo . Wasu nau'ikan nau'ikan dabi'u, kamar rigar da bushewar kunun kunne, ana kuma ƙaddara ta cikin yanayin koma baya na autosomal.[17][18] Wasu cututtuka na autosomal recessive sun zama ruwan dare gama gari saboda, a da, ɗaukar ɗaya daga cikin kuskuren kwayoyin halitta ya haifar da ɗan kariya daga cututtuka masu yaduwa ko guba kamar tarin fuka ko zazzabin cizon sauro .[19] Irin waɗannan cututtuka sun haɗa da cystic fibrosis,[20] cutar sikila,[21] phenylketonuria[22] da thalassaemia .[23]

  • Lalacewar gado a cikin enzymes gabaɗaya ana gadar su ta hanyar autosomal saboda akwai ƙarin ƙwayoyin chromosomes waɗanda ba X ba fiye da X-chromosomes, da kuma salon koma baya saboda enzymes daga ƙwayoyin halittar da ba su da tasiri gabaɗaya sun isa su hana bayyanar cututtuka a cikin masu ɗauka.
    Lalacewar gado a cikin enzymes gabaɗaya ana gadar su ta hanyar autosomal saboda akwai ƙarin ƙwayoyin chromosomes waɗanda ba X ba fiye da X-chromosomes, da kuma salon koma baya saboda enzymes daga ƙwayoyin halittar da ba su da tasiri gabaɗaya sun isa su hana bayyanar cututtuka a cikin masu ɗauka.
  • A gefe guda, lahani na gado a cikin sunadaran tsarin (irin su osteogenesis imperfecta, Marfan's syndrome da yawancin Ehlers-Danlos syndromes ) gabaɗaya suna da rinjaye na autosomal, saboda ya isa cewa wasu sassan suna da lahani don sa tsarin duka ya lalace. Wannan tsari ne mai rinjaye-mara kyau, inda samfurin kwayoyin halittar da ya rikide ya yi mummunar tasiri ga samfurin kwayoyin da ba ya canzawa a cikin tantanin halitta daya.
    A gefe guda, lahani na gado a cikin sunadaran tsarin (irin su osteogenesis imperfecta, Marfan's syndrome da yawancin Ehlers-Danlos syndromes ) gabaɗaya suna da rinjaye na autosomal, saboda ya isa cewa wasu sassan suna da lahani don sa tsarin duka ya lalace. Wannan tsari ne mai rinjaye-mara kyau, inda samfurin kwayoyin halittar da ya rikide ya yi mummunar tasiri ga samfurin kwayoyin da ba ya canzawa a cikin tantanin halitta daya.

X mai alaƙa da rinjaye

[gyara sashe | gyara masomin]

Rikicin da ke da alaƙa da X yana haifar da maye gurbi a cikin kwayoyin halitta akan X chromosome . 'Yan cuta kaɗan ne kawai ke da wannan tsarin gado, tare da babban misali shine rickets hypophosphatemic mai alaƙa da X. Maza da mata duka suna fama da wannan cuta, yayin da maza suka fi fama da cutar fiye da mata. Wasu yanayi masu rinjaye na X-linked, irin su Rett syndrome, incontinentia pigmenti type 2, da Aicardi syndrome, yawanci suna mutuwa a cikin maza ko dai a cikin mahaifa ko jim kadan bayan haihuwa, sabili da haka ana ganin su a cikin mata. Keɓancewa ga wannan binciken sune lokuta masu wuyar gaske waɗanda yara maza masu fama da cutar Klinefelter (44+xxy) suma suka gaji yanayin da ke da alaƙa da X kuma suna nuna alamun kama da na mace dangane da tsananin cutar. Damar kamuwa da cuta mai alaƙa da X ta bambanta tsakanin maza da mata. 'Ya'yan mutumin da ke da cutar da ke da alaka da X, duk ba za su sami matsala ba (tun da sun karbi chromosome na mahaifinsu na Y), amma 'ya'yansa mata duk za su gaji yanayin. Matar da ke da babbar cuta mai alaƙa da X tana da damar kashi 50% na samun ɗan tayin da ya shafa tare da kowane ciki, kodayake a lokuta irin su incontinentia pigmenti, zuri'ar mata ne kawai ke iya yiwuwa.

Recessive mai alaƙa da X

[gyara sashe | gyara masomin]

Halin koma bayan da ke da alaƙa da X shima yana haifar da maye gurbi a cikin kwayoyin halitta akan X chromosome. Maza sun fi mata yawa akai-akai, saboda kawai suna da X chromosome da ake bukata don yanayin ya bayyana. Damar kamuwa da cutar ta bambanta tsakanin maza da mata. 'Ya'yan mutumin da ke da matsalar koma baya mai alaka da X ba za a shafa ba (tun da sun karɓi chromosome na mahaifinsu na Y), amma 'ya'yansa mata za su kasance masu ɗaukar kwafi ɗaya na kwayar halittar da ta canza. Matar da ke dauke da cutar ta koma baya (X R X r ) tana da kashi 50% na samun 'ya'ya maza da abin ya shafa da kuma damar samun 50% na 'ya'ya mata masu dauke da kwafin kwayar halittar da aka canza. Halin da ke da alaƙa da X sun haɗa da cututtuka masu tsanani na hemophilia A, Duchenne Muscular dystrophy, da Lesch-Nyhan ciwo, da kuma yanayi na yau da kullum da marasa mahimmanci kamar gashin gashi na namiji da kuma ja-kore launi makanta . Halin rikice-rikice masu alaƙa da X na iya bayyana a wasu lokuta a cikin mata saboda skewed X-inactivation ko monosomy X ( Turner syndrome ).

Raunin da ke da alaƙa da Y yana faruwa ne ta hanyar maye gurbi akan Y chromosome. Ana iya yada waɗannan sharuɗɗan ne kawai daga jima'i na heterogametic (misali maza) zuwa zuriyar jinsi ɗaya. Mafi sauƙaƙa, wannan yana nufin cewa cututtukan da ke da alaƙa da Y a cikin ɗan adam ba za a iya yada su kawai daga maza zuwa 'ya'yansu ba; Mata ba za su taɓa yin tasiri ba saboda ba su mallaki Y-allosomes ba.

Cututtukan da ke da alaƙa da Y suna da wuya sosai amma sanannun misalan yawanci suna haifar da rashin haihuwa. Haihuwa a cikin irin waɗannan yanayi yana yiwuwa ne kawai ta hanyar hana haihuwa ta hanyar taimakon likita.

Mitochondrial

[gyara sashe | gyara masomin]

Wannan nau'in gadon, wanda kuma aka sani da gadon uwa, shine mafi ƙarancin kuma ya shafi kwayoyin halitta 13 da DNA mitochondrial ke ɓoye. Domin ƙwayoyin ƙwai ne kaɗai ke ba da gudummawar mitochondria ga amfrayo masu tasowa, uwaye (waɗanda abin ya shafa) kaɗai za su iya ba da yanayin DNA na mitochondrial ga 'ya'yansu. Misalin irin wannan rashin lafiya shine Leber's hereditary optic neuropathy .

Yana da mahimmanci a jaddada cewa mafi yawan cututtukan mitochondrial (musamman lokacin da alamun bayyanar cututtuka suka tasowa a farkon rayuwa) suna haifar da lalacewa ta hanyar kwayoyin halitta, kamar yadda mitochondria ya fi girma ta DNA wanda ba mitochondrial ba. Wadannan cututtuka galibi suna bin gadon gado na autosomal.[24]

Multifactorial cuta

[gyara sashe | gyara masomin]

Cututtukan kwayoyin halitta na iya zama hadaddun, multifactorial, ko polygenic, ma'ana ana iya danganta su da tasirin kwayoyin halitta da yawa a hade tare da salon rayuwa da abubuwan muhalli. Cututtuka masu yawa sun haɗa da cututtukan zuciya da ciwon sukari . Kodayake rikice-rikice masu rikitarwa sukan taru a cikin iyalai, ba su da tsayayyen tsarin gado. Wannan yana da wahala a iya tantance haɗarin da mutum ke da shi na gado ko kuma kamuwa da wannan cuta. Cututtuka masu rikitarwa suma suna da wahalar nazari da kuma magance su domin har yanzu ba a gano takamaiman abubuwan da ke haifar da mafi yawan wadannan cututtuka ba. Nazarin da ke nufin gano dalilin rikice-rikice masu rikitarwa na iya amfani da hanyoyi da yawa don ƙayyade ƙungiyoyin genotype - phenotype . Hanya ɗaya, tsarin genotype-farko, yana farawa ta hanyar gano bambance-bambancen kwayoyin halitta a cikin marasa lafiya sannan kuma ƙayyade alamun bayyanar cututtuka. Wannan ya saba wa mafi al'ada phenotype-farko hanya, kuma zai iya gano dalilan haddasawa da a baya an rufe su da asibiti iri -iri, shiga, da kuma bayyanawa.

A kan ƙayyadaddun ƙayyadaddun ƙayyadaddun cututtuka, cututtuka na polygenic sun kasance suna "gudu a cikin iyalai", amma gadon bai dace da tsari mai sauƙi ba kamar cututtukan Mendelian . Wannan baya nufin cewa kwayoyin halitta ba za a iya gano su a ƙarshe kuma su yi nazari ba. Hakanan akwai wani bangaren muhalli mai ƙarfi ga yawancin su (misali, hawan jini ). Sauran abubuwan sun haɗa da:

Cutar chromosomal

[gyara sashe | gyara masomin]
Chromosomes a cikin Down Syndrome, yanayin ɗan adam na yau da kullun saboda aneuploidy. Akwai chromosomes guda uku 21 (a cikin jere na ƙarshe).

Rashin lafiyar chromosomal wani yanki ne na chromosomal ɓatacce, ƙari, ko mara daidaituwa na DNA. Yana iya kasancewa daga adadi mai ƙima na chromosomes ko rashin daidaituwar tsari a cikin ɗaya ko fiye da chromosomes. Misalin waɗannan cututtuka shine trisomy 21 ( Down syndrome ), wanda a ciki akwai ƙarin kwafin chromosome 21.

Bincike

[gyara sashe | gyara masomin]

Saboda nau'ikan cututtukan ƙwayoyin cuta da aka sani, ganewar asali ya bambanta kuma ya dogara da cutar. Yawancin cututtukan ƙwayoyin cuta ana gano su kafin haihuwa, a lokacin haihuwa, ko kuma lokacin ƙuruciyar yara duk da haka wasu, irin su cutar Huntington, na iya tserewa ganowa har sai majiyyaci ya fara girma.

Abubuwan asali na rashin lafiyar kwayoyin halitta sun dogara ne akan gadon kayan gado. Tare da zurfin tarihin iyali, yana yiwuwa a hango yiwuwar rashin lafiya a cikin yara wanda ke jagorantar ƙwararrun likitocin zuwa takamaiman gwaje-gwaje dangane da rashin lafiya da ba da damar iyaye su shirya don canje-canjen salon rayuwa, tsammanin yiwuwar haihuwa, ko tunanin ƙarewa .[25] Ciwon ciki na iya gano alamun rashin daidaituwa a cikin ci gaban tayin ta hanyar duban dan tayi, ko gano kasancewar sifofin halayen ta hanyoyin ɓarke waɗanda suka haɗa da shigar da bincike ko allura a cikin mahaifa kamar na amniocentesis .[26]

Hasashen

[gyara sashe | gyara masomin]

Ba duk cututtukan kwayoyin halitta ba ne kai tsaye ke haifar da mutuwa; duk da haka, babu wasu sanannun magunguna na cututtukan ƙwayoyin cuta. Yawancin cututtuka na kwayoyin halitta suna shafar matakan ci gaba, irin su Down syndrome, yayin da wasu ke haifar da bayyanar cututtuka na jiki kawai kamar dystrophy na muscular . Sauran cututtuka, irin su cutar Huntington, ba su nuna alamun ba har sai sun girma. A lokacin aiki na rashin lafiyar kwayoyin halitta, marasa lafiya galibi suna dogara ne akan kiyayewa ko rage jinkirin lalacewar ingancin rayuwa da kiyaye ikon kai na haƙuri. Wannan ya haɗa da jiyya na jiki, kula da ciwo, kuma yana iya haɗawa da zaɓi na madadin shirye-shiryen magani .

Magani

[gyara sashe | gyara masomin]
Daga ilimin genomics na sirri zuwa maganin kwayoyin halitta

Maganin cututtukan ƙwayoyin cuta yaƙi ne da ke gudana, tare da fiye da 1,800 na gwajin asibiti da aka kammala, ana ci gaba, ko kuma an amince da su a duk duniya.[27] Duk da haka, yawancin zaɓuɓɓukan magani sun haɗa da magance alamun rashin lafiya a ƙoƙarin inganta rayuwar marasa lafiya.

Maganin kwayoyin halitta yana nufin wani nau'i na magani inda aka gabatar da kwayar halitta mai lafiya ga majiyyaci. Wannan ya kamata ya rage lahani da ke haifar da kuskuren ƙwayar cuta ko rage ci gaban cutar. Babban cikas shine isar da kwayoyin halitta zuwa ga tantanin halitta, nama, da gabobin da cutar ta shafa. Masu bincike sun bincika yadda za su iya shigar da kwayar halitta a cikin yuwuwar triliyoyin sel waɗanda ke ɗauke da gurɓataccen kwafin. Samun amsar wannan ya kasance shingen hanya tsakanin fahimtar cutar kwayar halitta da kuma gyara matsalar kwayoyin halitta.[28]

Epidemiology

[gyara sashe | gyara masomin]

Kusan 1 a cikin 50 mutane suna fama da sanannen rashin lafiya-kwayoyin halitta, yayin da kusan 1 cikin 263 ke fama da cutar chromosomal . Kusan kashi 65% na mutane suna da wata irin matsalar lafiya sakamakon maye gurbi na haihuwa. [29] Saboda babban adadin cututtukan kwayoyin halitta, kusan 1 cikin mutane 21 suna fama da cutar ta kwayoyin halitta da aka rarraba a matsayin " rauni " (wanda aka fi sani da yana shafar ƙasa da 1 cikin mutane 2,000). Yawancin cututtuka na kwayoyin halitta ba su da yawa a kansu. Akwai sanannun cututtukan ƙwayoyin cuta sama da 6,000, kuma ana bayyana sabbin cututtukan ƙwayoyin cuta koyaushe a cikin littattafan likitanci.

Tarihi

[gyara sashe | gyara masomin]

Sanannen yanayin kwayoyin halitta na farko a cikin hominid yana cikin nau'in burbushin halittu Paranthropus robustus , tare da sama da kashi uku na mutane suna nuna amelogenesis imperfecta .[30]

Duba kuma

[gyara sashe | gyara masomin]
  • FINDbase (Mai yawan bayanai na cuta na gado)
  • Kwayoyin cututtuka na kwayoyin halitta
  • Jerin cututtukan kwayoyin halitta
  • Ƙungiyoyin jama'a a cikin kwayoyin halitta
  • Kuskuren Mendelian

Manazarta

[gyara sashe | gyara masomin]
  1. ↑ "Genetic Disorders". learn.genetics.utah.edu. Retrieved 2019-07-01.
  2. ↑ Lvovs, D.; Favorova, O.O.; Favorov, A.V. (2012). "A Polygenic Approach to the Study of Polygenic Diseases". Acta Naturae. 4 (3): 59–71. doi:10.32607/20758251-2012-4-3-59-71. ISSN 2075-8251. PMC 3491892. PMID 23150804.
  3. ↑ Reference, Genetics Home. "What are the different ways in which a genetic condition can be inherited?". Genetics Home Reference (in Turanci). Retrieved 2020-01-14.
  4. ↑ "OMIM Gene Map Statistics". www.omim.org. Retrieved 2020-01-14.
  5. ↑ 5.0 5.1 "Orphanet: About rare diseases". www.orpha.net (in Turanci). Retrieved 2020-01-14.
  6. ↑ Bick, David; Bick, Sarah L.; Dimmock, David P.; Fowler, Tom A.; Caulfield, Mark J.; Scott, Richard H. (March 2021). "An online compendium of treatable genetic disorders". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 187 (1): 48–54. doi:10.1002/ajmg.c.31874. ISSN 1552-4876. PMC 7986124. PMID 33350578.
  7. ↑ 7.0 7.1 Kumar, Pankaj; Radhakrishnan, Jolly; Chowdhary, Maksud A.; Giampietro, Philip F. (2001-08-01). "Prevalence and Patterns of Presentation of Genetic Disorders in a Pediatric Emergency Department". Mayo Clinic Proceedings. 76 (8): 777–783. doi:10.4065/76.8.777. ISSN 0025-6196. PMID 11499815.
  8. ↑ Jackson, Maria; Marks, Leah; May, Gerhard H.W.; Wilson, Joanna B. (2018-12-03). "The genetic basis of disease". Essays in Biochemistry. 62 (5): 643–723. doi:10.1042/EBC20170053. ISSN 0071-1365. PMC 6279436. PMID 30509934. (calculated from "1 in 17" rare disorders and "80%" of rare disorders being genetic)
  9. ↑ "Genetics of Cancer". www.medschool.lsuhsc.edu. Retrieved 2020-01-14.
  10. ↑ "Prevalence and incidence of rare diseases" (PDF).
  11. ↑ "OMIM Entry #144010 – HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2". www.omim.org. Retrieved 2019-07-01.
  12. ↑ Williams T. N.; Obaro S. K. (2011). "Sickle cell disease and malaria morbidity: a tale with two tails". Trends in Parasitology. 27 (7): 315–320. doi:10.1016/j.pt.2011.02.004. PMID 21429801.
  13. ↑ Kuliev, Anver; Verlinsky, Yury (2005). "Preimplantation diagnosis: A realistic option for assisted reproduction and genetic practice". Curr. Opin. Obstet. Gynecol. 17 (2): 179–83. doi:10.1097/01.gco.0000162189.76349.c5. PMID 15758612. S2CID 9382420.
  14. ↑ Simcikova D, Heneberg P (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577. Bibcode:2019NatSR...918577S. doi:10.1038/s41598-019-54976-4. PMC 6901466. PMID 31819097.CS1 maint: uses authors parameter (link)
  15. ↑ 15.0 15.1 Griffiths, Anthony J.F.; Wessler, Susan R.; Carroll, Sean B.; Doebley, John (2012). "2: Single-Gene Inheritance". Introduction to Genetic Analysis (10th ed.). New York: W.H. Freeman and Company. ISBN 978-1-4292-2943-2.
  16. ↑ "Inheritance Patterns for Single Gene Disorders". learn.genetics.utah.edu. Retrieved 2019-07-01.
  17. ↑ Wade, Nicholas (January 29, 2006). "Japanese Scientists Identify Ear Wax Gene". New York Times.
  18. ↑ Yoshiura K; Kinoshita A; Ishida T; et al. (March 2006). "A SNP in the ABCC11 gene is the determinant of human earwax type". Nat. Genet. 38 (3): 324–30. doi:10.1038/ng1733. PMID 16444273. S2CID 3201966.
  19. ↑ Mitton, Jeffery B (2002). "Heterozygous Advantage". eLS. doi:10.1038/npg.els.0001760. ISBN 0470016175.
  20. ↑ Mitton, Jeffery B (2002). "Heterozygous Advantage". eLS. doi:10.1038/npg.els.0001760. ISBN 0470016175.
  21. ↑ Allison AC (October 2009). "Genetic control of resistance to human malaria". Current Opinion in Immunology. 21 (5): 499–505. doi:10.1016/j.coi.2009.04.001. PMID 19442502.
  22. ↑ Woolf, LI (1986). "The heterozygote advantage in phenylketonuria". American Journal of Human Genetics. 38 (5): 773–5. PMC 1684820. PMID 3717163.
  23. ↑ Weatherall, D. J. (2015). "The Thalassemias: Disorders of Globin Synthesis". Williams Hematology (9e ed.). McGraw Hill Professional. p. 725. ISBN 9780071833011.
  24. ↑ Nussbaum, Robert; McInnes, Roderick; Willard, Huntington (2007). Thompson & Thompson Genetics in Medicine. Philadelphia PA: Saunders. pp. 144, 145, 146. ISBN 9781416030805.
  25. ↑ Milunsky, Aubrey, ed. (2004). Genetic disorders and the fetus : diagnosis, prevention, and treatment (5th ed.). Baltimore: Johns Hopkins University Press. ISBN 978-0801879289.
  26. ↑ "Diagnostic Tests – Amniocentesis". Harvard Medical School. Archived from the original on 2008-05-16. Retrieved 2008-07-15.
  27. ↑ Ginn, Samantha L.; Alexander, Ian E.; Edelstein, Michael L.; Abedi, Mohammad R.; Wixon, Jo (February 2013). "Gene therapy clinical trials worldwide to 2012 – an update". The Journal of Gene Medicine. 15 (2): 65–77. doi:10.1002/jgm.2698. PMID 23355455. S2CID 37123019.
  28. ↑ Verma, I. M. (22 August 2013). "Gene Therapy That Works". Science. 341 (6148): 853–855. Bibcode:2013Sci...341..853V. doi:10.1126/science.1242551. PMID 23970689. S2CID 206550787.
  29. ↑ Empty citation (help)
  30. ↑ "A probable genetic origin for pitting enamel hypoplasia on the molars of Paranthropus robustus". ResearchGate (in Turanci). Retrieved 2019-03-09.
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