Heritable mutum cuta. List. Mafi na kowa da kuma hatsari cututtuka

A farkon 21st karni, akwai fiye da 6 da dubu. Iri hereditary cututtuka. Yanzu, a da yawa cibiyoyin ko'ina cikin duniya suna karatu hereditary cututtuka na mutum, wanda jerin ne babbar.

Namiji yawan yana da mafi kayyade lahani kuma ne m iya juna biyu da lafiya yaro. Duk da yake cikin dalilan ba su share duk alamu na malformations, amma za mu iya ɗauka cewa a cikin gaba 100-200 shekaru, kimiyya yana da mu jimre wa] annan al'amurran.

Mene ne a kayyade cuta? rarrabuwa

Auren matsayin kimiyya ya fara ta tafiya a 1900 tare da binciken. Kwayoyin cututtuka su ne wadanda cewa suna hade da munanan a cikin kwayoyin tsarin da mutum. Sabawa na iya faruwa a daya gene ko kaɗan.

Hereditary cututtuka:

1. Autosomal rinjaye.
2. Autosomal recessive.
3. Sex-nasaba.
4. Chromosomal cututtuka.

Yiwuwar yaro ta rashin lafiya da autosomal rinjaye sabawa - 50%. Lokacin da wani autosomal recessive - 25%. Cuta, jima'i-nasaba, su ne waɗanda da cewa daukawa a lalace X chromosome.

Nasledstvennnye cuta

Ga wasu misalai daga cututtuka, bisa ga vysheozvuchennoy rarrabuwa. Saboda haka, to da rinjaye-recessive cututtuka sun hada da:

• Marfan ciwo.
• Lokaci-lokaci inna.
• Thalassemia.
• Albright ta cutar.
• . Otosclerosis.

recessive:

• Phenylketonuria.
• Ichthyosis.
• Wasu.

Sex-nasaba da cututtuka:

• Hemophilia.
• Murdede Dystrophy.
• Farben cuta.

Har ila yau, a ji chromosomal hereditary adam cututtuka. List of chromosomal munanan wadannan:

• Shereshevskogo-Turner ciwo.
• Klinefelter ciwo.
• Cat ta kira ciwo.
• Down ta ciwo.

By polygenic cututtuka sun hada da:

• Sāke wuri na hip (nakasar).
• Zuciya lahani.
• Schizophrenia.
• Kogon lebe da kuma palate.

Mafi na kowa kayyade abnormality - syndactyly. Watau Fusion na yatsunsu. Syndactyly - wani take hakkin da mafi m da bi ta hanyar tiyata. Duk da haka, wannan sabawa yana tare da sauran mafi tsanani syndromes.

Abin da cututtuka ne mai hatsari

Daga cikin wadanda aka jera cututtuka zai iya bambanta mafi hatsari mutum hereditary cututtuka. Lissafa su kunshi da iri anomalies, inda chromosomal trisomy auku ko polysomes, wato, a lokacin da maimakon a biyu daga chromosomes an kiyaye gaban 3, 4, 5 ko fiye. Chromosome 1 da aka samu da kuma maimakon 2. Duk wadannan sabawa ne saboda take hakkin cell division.

A mafi hatsari na mutum hereditary cuta:

• Edwards 'ciwo.
• Kashin baya murdede amyotrophy.
• Patau ciwo.
• Canavan cuta.
• Hemophilia.
• Sauran cututtuka.

Saboda wadannan da suka faru, da yaro zaune a shekara ko biyu. A wasu lokuta, da sabawa ba haka tsanani da yaro zai iya rayuwa har zuwa 7, 8 ko 14 shekaru.

Down ta ciwo

Down ciwo da aka gada, idan daya ko iyaye biyu ne yan dako na m chromosome. More musamman, da ciwo da ake dangantawa da trisomy 21 chromosomes (m. E. 21 chromosome 3 maimakon 2). Yara da Down ciwo da squint, da crease a cikin wuyansa, da mahaukaci siffar daga cikin kunnuwa, zuciya matsaloli da hankulansu retardation. Amma ga rayuwa da jariri hadari chromosomal abnormality ba za a iya gudanar.

Yanzu statistics nuna cewa daga 1 700-800 yara haife tare da wannan ciwo. Matan da suka so a yi baby bayan 35 more iya bayar da haihuwa ga wannan jariri. Yiwuwar samun wani wuri 1 zuwa 375. Amma da mace, a haifi jaririn reshivshayasya 45 na da yiwuwar samun 1 zuwa 30.

Akrokraniodisfalangiya

Irin anomaly gado - autosomal rinjaye. Dalilin ciwo - wani take hakkin chromosome 10. A kimiyya, wannan cutar da ake kira akrokraniodisfalangiya idan sauki, da Apert ciwo. Halin da fasali na halitta na jiki, kamar:

• brahikefaliya (take hakki na da fadi da tsawon na kwanyar).
• jijiyoyin zuciya fe daga cikin kwanyar sutures, game da shi, ya lura da hauhawar jini (hawan jini a cikin kwanyar).
• syndactyly.
• shahararren goshi.
• shafi tunanin mutum retardation sau da yawa a kan bango na wani kwanyar cewa compresses kwakwalwa da kuma ba ya bayar da Yunƙurin zuwa jijiya Kwayoyin.

Yau, yara da Apert ciwo, tiyata da aka wajabta shi a kara da kwanyar don mayar da jini. A shafi tunanin mutum underdevelopment yi wa stimulants.

Idan wani iyali yana da yaro da ganewar asali na ciwo, yiwuwar cewa biyu yaro za a haifa tare da wannan deflection, sosai high.

Syndrome farin ciki tsana da Canavan cuta - Van Bogart - Bertrand

Ka yi la'akari da cikakken bayani kuma wadannan cututtuka. Gane Angelman ciwo zai iya zama wani wuri a cikin 3-7 shekaru. Yara ne cramps, matalauta narkewa, da matsaloli tare da daidaituwa na ƙungiyoyi. Mafi yawansu ba su squint da matsaloli tare da tsokoki na fuska, wanda shi ne dalilin da ya sa a kan fuska sau da yawa murmushi. Movement of yaro yana sosai tilasta. Domin likitoci ya bayyana a gare ku a lokacin da yaro ƙoƙarin. Iyaye a mafi yawan lokuta ba su san abin da ke faruwa kuma ma fiye da haka tare da abin da yake da alaka. A kadan daga baya, musamman ganin cewa za su iya yin magana ba, kawai kokarin wani abu unintelligible yi guna-guni.

Dalilin da cewa yaro bayyana ciwo - wannan shi ne matsala a cikin 15 chromosome. Yana gana da cutar ne musamman rare - 1 hali ta 15 dubu haihuwar ..

Sauran cututtuka - Canavan cuta - halin da cewa yaro yana da wani rauni tsoka sautin, ya yi matsaloli hadiya abinci. A cuta ne ya sa ta raunuka na tsakiya m tsarin. A dalilin - asarar guda gene a chromosome 17. Saboda haka, kwakwalwa jijiya Kwayoyin suna hallaka tare da m gudun.

Alamun cutar za a iya gani a wani 3-watan shekaru. Canavan cutar aka bayyana kamar haka:

1. Murdede hypotonia.
2. Macrocephaly.
3. Seizures faruwa a cikin watanni da shekaru.
4. The yaro ba zai iya rike kansa karkata zuwa ga gaskiya.
5. Bayan watanni 3, ta ƙara agara reflexes.
6. Mutane da yawa yara zama makafi zuwa 2 shekaru.

Kamar yadda ka gani, sosai bambancin mutum hereditary cuta. List gabatar kawai a matsayin misali, yana da nisa daga complete.

Ya kamata a lura da cewa idan iyaye biyu da take hakkin a wanda kuma wannan gene, da chances na ciwon lafiya yaro ne mai girma, amma idan anomalies a daban-daban kwayoyin halitta, ba za mu iya ji tsoro. An sani cewa a 60% na lokuta, chromosomal munanan a tayin manyan zuwa ashara. Amma duk da haka 40% na wadannan yara suna haife kuma fada ga rayukansu.