Autosomal rinjaye hali. Autosomal recessive ãyã

Yawan daban-daban cututtuka da za su iya mai tsanani ƙuntata mutum aiki har ma da kai ga mutuwa, ne kullum girma. Kamar haka wajibi ne a fahimci wani muhimmin al'amari: wasu daga cikin pathologies cewa karya na jiki ayyuka ba su samu, kuma, suka ce, da su Tushen a itatuwa aure. Muna magana ne game gādon autosomal dabiu wuce sauka daga tsara zuwa tsara.

Abin da ake nufi da an autosomal ãyã

Delving cikin jigon da lokaci, yana da muhimmanci na farko na dukkan kula da wannan alama na wani dabba a matsayin gadar hali. A mafi yawan lokuta, yara kama da iyayensu, amma a lokaci guda a cikin wannan iyali shi ne kusan ko da yaushe bayyananne wasu bambance-bambance.

A wasu kalmomin, kowane na da mutum halaye, amma su ne a zahiri ɓangare na kwayoyin al'adunmu. Saboda haka, autosomal alamar - bai zama ba fãce gādon kwayoyin halaye na iyaye.

Transmission daga cututtuka

Bugu da kari zuwa takamaiman siffofin da mutum, wani mutum zai iya yi gãdo daga mahaifinsa da mahaifiyarsa da wasu cututtuka. Wannan hujja ne saboda tasirin da maye gurbi kwayoyin halitta da cewa ana sarrafa a cikin autosomes. A wannan yanayin, wadannan alamu za a iya raba biyu key yankunan: rinjaye da kuma recessive. Dukansu suna da gagarumin tasiri a kan tsarin da al'adunmu na mutum.

Autosomal rinjaye hali

Kowane irin na da musamman gādo. Idan muka yi la'akari da wani autosomal rinjaye, shi ne ya kamata a lura da cewa a cikin wannan harka domin cutar gaji da isasshen watsa daga cikin mutant allele na ko dai iyaye. Irin wannan fasalin gadon daidai na iya faruwa a duka maza da mata. A gaskiya ma, wani autosomal rinjaye gado za a iya bayyana a matsayin canja halayyar, wanda aka sarrafawa da wani rinjaye allele autosomal genes. Tare da irin wannan gādo ga bayyanuwar da cutar zai daya kawai mutant allele, sarrafa a cikin wani autosome.

The bushãra ne cewa mafi yawan cututtuka da ake daukar kwayar cutar a cikin irin wannan hanya, gagarumin cuta ba sa ba, kuma bai yi wani gagarumin detrimental sakamako a kan mutum haihuwa aiki. Idan ka kwatanta matakin na da tasiri a yawan cututtuka, da rinjaye cututtuka sau da yawa zama dalili na wani sabawa, maimakon recessive. A gaban irin wannan maye gurbi a cikin daya daga cikin biyu da na biyu da cikakken kiwon lafiya hadarin cutar watsa ne 50%. Saboda wannan dalili, wani autosomal rinjaye hali, wanda aka bayyana a cikin nau'i na maye gurbi za a iya wuce a daga tsara zuwa tsara, kuma, saboda haka, suna da wani iyali hali. Ba kamar autosomal recessive, wadannan alamu ne bayyananne a heterozygotes wanda da daya mutated da daya na al'ada alleles a kan homologue chromosomes.

Cuta da autosomal rinjaye gādo

A irin wannan watsa hereditary dabiu domin raya gaba ƙarni na cutar isasshe heterozygous maye gurbi m. An ban sha'awa Gaskiyar ita ce, da rinjaye autosomal alamar nufin da wannan mita a matsayin cuta a cikin 'yan mata da yara maza.

Idan cutar ne sakamakon tasirin da irin wannan watsa daga gadar hali, akwai wani yaro, ko iyaye biyu ne lafiya, to, wannan gaskiya ne fitowan da wani sabon maye gurbi a cikin jam sel na uwa ko uba. Yana da muhimmanci a fahimci cewa a cikin iyali daya rinjaye gene effects a kan yara za su iya zama daban-daban. Wannan yana nufin cewa na asibiti hoto da kuma mai tsanani da cuta ne ba dole ba ne wannan.

misalai na cututtuka

Autosomal rinjaye sifa irin furta ta da wata cũta, kamar Marfan ciwo. Irin wannan ganewar asali ne cewa connective nama a cikin jikin mutum ya buge. A marasa lafiya fama da Marfan ciwo yawanci bakin ciki bakin ciki yatsunsu kuma wata gabar jiki disproportionate tsawon. Irin wadannan mutane sau da yawa ci gaba malformations na lakã kuma cardiac bawuloli.

Wani hereditary cuta, wadda aka bayyana ta a gaban wani autosomal rinjaye gādon dabiu, - wani brachydactyly, ta korotkopalost. Wannan shi ne wani m alama, abin da ke faruwa a daya daga cikin iyaye. Bayyanuwar da cuta ne riga m, a farkon kwanaki bayan haihuwa saboda m canje-canje a cikin phalanges na yatsun kafa da hannuwa.

Hereditary wani nauyi - autosomal hali, wanda kuma za a iya bayyana a matsayin rinjaye.

Amyotrophic a kaikaice sclerosis (ALS, ko Lou Gehrig ta cuta) ne kuma a sakamakon autosomal rinjaye gado da kuma sifa nufin da kungiyar motor-neuron cuta. A cutar za a iya bayyana a matsayin m m neurodegenerative cuta, wadda aka sa ta degeneration na tsakiya m tsarin Kwayoyin - motor neurons. Babban aiki na wadannan Kwayoyin - don kula da tsoka sautin da kuma goyon baya na mota daidaituwa.

Autosomal recessive hali: Features

Wannan irin gado yana da dama key halaye:

• ba zai iya shafar halin yara, har idan pedigree da yawa dako hereditary cuta kamar yadda recessive dabiu bayyana kansu a kowane zamani (gado horizontally, sabanin da rinjaye halaye).
• recessive mutant gene (s) fenopticheski bayyana ne kawai a cikin yanayin a lokacin da shi ne a cikin homozygous jihar (aa).
• hereditary cuta bayyana daidai sau da yawa kamar yadda a cikin mace da namiji;
• da alama cewa wani yaro za a haife m ƙaruwa da yawa a cikin harka na aure tsakanin kusantar dangi.
• fenopticheski lafiya iyaye na wani yaro da cutar za a iya bayyana heterozygous dako na mutant gene.

Shi ne ya kamata a lura da cewa a cikin dukan autosomal recessive hereditary cuta gado ne ya fi kowa bayyanar cututtuka. Cututtuka da cewa za a iya bayyana a matsayin sakamako na wannan alama hada da babban rukuni fermentopathia, abu don rayuwa cuta, jini cututtuka (ciki har da homeostasis), koda, rigakafi da tsarin, da sauransu.

Misalai autosomal recessive cututtuka

• Wannan kungiyar iya dangana ãyõyi Gierke cuta (glycogenosis). Bayyanuwar wannan kwayoyin cuta lalacewa ta hanyar wani rashi na enzyme glucose-6-fotosfatazy, wadda take kaiwa zuwa wani babba tabarbarewar hanta glucose ikon haifa. Take hakkin irin wannan muhimmanci tsari babu makawa take kaiwa zuwa da qarancin ruwa da.
• Maple syrup fitsari cuta - shi ne ma wani autosomal hali, wanda za a iya bayyana a matsayin recessive. A cuta yana da wani sunan - da Maple syrup fitsari cuta. Irin wannan ganewar asali ya shafi wani na rayuwa cuta da cewa ya zama sakamakon rashin iya metabolism na branched-sarkar amino acid. Wannan cutar za a iya dangana ga kwayoyin acidemia.
• Tay-Sachs cutar, wanda yana da sunaye kamar neonatal amavroticheskaya idiocy da rashi na hexosaminidase. Wannan cuta ne a kayyade autosomal recessive da take kaiwa zuwa m tabarbarewar jiki da hankulansu damar iya yin komai na yaro.
• Ya kamata a lura da cewa, da bambanci ga irin wannan cuta, wani nauyi, autosomal recessive nuni da launi makanta ne, amma yana iya zama a cikin category na "jima'i-nasaba". Take hakkin launi iya zama ko dai m ko complete. Mafi na kowa ne wata karkatacciyar fahimta na ja. Shi ne ya kamata a lura da cewa a wasu lokuta, illa tsinkaye da wani launi da aka biya diyya mafi ingantaccen bambanci tsakanin inuwõyinta suna kusa, wasu launuka.

• Phenylketonuria - wani autosomal recessive hali, wanda yakan haifar da wani gaji na rayuwa cuta. Yana sa da take hakkin hasara phenylalanine enzyme.

Abin da ya kamata a fahimci da cututtuka, jima'i-nasaba

Cututtuka na wannan kungiyar ne saboda gaskiyar cewa maza suna da daya X chromosome, yayin da biyu mata. Haka kuma, wakilin namiji, gaji mahaukaci gene ne hemizygous da heterozygous mace. Hereditary halaye, wanda ake daukar kwayar cutar a cikin X-nasaba da irin su iya faruwa da daban-daban yiwuwa a duka biyu mata da maza.

Idan muka yi la'akari da rinjaye X-nasaba gado na cuta, shi ne ya kamata a lura da cewa irin wannan hali ne mafi kowa a mata. Wannan shi ne saboda da ya karu yiwuwar samun pathological allele daga iyaye daya. Amma ga maza, suna iya su mallaki gene na irin wannan ne kawai daga cikin mahaifiyarsa. A wannan yanayin, namiji layi na autosomal rinjaye hali nasaba da X chromosome, an shige wa dukan mata da maza, yayin da cutar ba bayyana kanta a 'ya'ya maza, domin ba su sami chromosome uba.

Idan ka kula da autosomal recessive X-nasaba gādon da wata ãyã, ana iya gani cewa, irin cututtuka ci gaba da yafi a hemizygous maza. Bi da bi, mata su ne a gaskiya ko da yaushe heterozygous, saboda haka, fenopticheski lafiya. By X-nasaba hereditary dabiu hada da cututtuka kamar Duchenne murdede dystrophy, Becker, haemophilia da sauran Hunter ciwo.

Amma ga Y-nasaba gado, wadannan cututtuka suna lalacewa ta hanyar gaban Y-chromosome a cikin maza na musamman. A mataki na wannan gene za a iya wuce kawai daga uba zuwa ga ɗa ga al'ummomi.

Features na gado na mitochondrial Hanyar

Wannan irin gado fice da cewa da canja wurin daukan wuri ta hanyar mitochondrial ãyõyi da suke a kwai jini. Lokacin da wannan chromosome ne annular a kowane mitochondria, kuma su kwai a game da 25 000. Gene maye gurbi da faruwa a cikin mitochondria a cikin akwati inda a cikin jiki akwai m ophthalmoplegia, mitochondrial myopathy, da kuma na gani jijiya atrophy Leberaf. Cututtuka da suke da wani sakamako na mataki na wannan factor za a iya daukar kwayar cutar daga uwa zuwa wannan mita a matsayin 'ya'ya mata da' ya'ya maza.

A general, a matsayin autosomal unbonded da ãyõyinMu, kuma sauran iri kwayoyin maye gurbi iya samun wani gagarumin tasiri a kan yanayin jiki da dama da al'ummomi da kuma ne dalilin da yawa tsanani cututtuka.