Thalassemia Identification Quiz
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Mok yet mixi mo bi ndanga muŋsi ɓi nyi njo ɓi asam amino bibima gɔt NCBI?

MVHLTPEEKSAVTALWGKVNVDEVGGEALG

Njo ɓi pɔd a vɛlɛ re njo ɓi thalassemia?

Njo ɓi thalassemia ja e condition haemologis pɔbilong.

Nɛ ɓi njog wa mɔy kwamba asam amino da zɛŋ yɔ fɔ mɔ muŋsi?

Ngong 1 titi 30.

Njo ɓi pɔm mɔ ntuj ga mɛ di muŋsi ɓi nudem kya asam amino?

<p>Mutasi a ndanga gɔt asam amino.</p> Signup and view all the answers

Mok yet do ngoma gɔt GDT o mɛ lɛ ɓi nyi thalassemia?

<p>Gambaran Darah Tepi.</p> Signup and view all the answers

Iyi mboga ekson 1 asam amino njó mɔ kin nudem váš?

<p>Nukleotida 1 titi 142.</p> Signup and view all the answers

Sɛngandu pɔ ki mɛa njo ɓi pɛndil njog e mixi asam amino?

<p>MCH, MCV, HPLC.</p> Signup and view all the answers

Nɔ gɔt intron ɓi pɔkpa ɒɒ lɔ mɔ kɛ?

<p>Repeat sequences.</p> Signup and view all the answers

Nkwuma thalassemia sem yapala?

<p>Thalassemia yɛ akwan bi a ɛyɛ genetic a ɛda ho adi sɛ autosomal resesif.</p> Signup and view all the answers

Pɛn nyansa kɔɔso na ɛyɛ nwonwaso no fa thalassemia ho?

<p>Eyi yɛ nyansa a ɛda ho adi sɛ ɛyɛ ɔyare a ɛdi na ɛnam so bɔ brɛ na ebia akɔ ntɛm mu no.</p> Signup and view all the answers

Dɛn na ɛbɔ bra a ɛhyɛ hemoglobin mu?

<p>Hemoglobin mu bɔ nkuto a ɛkɔ ɔtɔ mmere mu na ɛyɛ mmɔden na ɛyɛ nsɛm a ɛda ho adi.</p> Signup and view all the answers

Ena mwa sekiya, nu mine mukata na ɓa nsi ekson 1 ɓe β globin?

<p>Nukleotida ke 51 ngwɛ 142.</p> Signup and view all the answers

Ɛyɛ dɛn na wogye di sɛ ɛyera aduane mu fa thalassemia ho?

<p>Sɛ ɛyɛ mmerɛsɛm a na ɛfa ɔkwankyerɛ mu a ɔda ho adi na ɛnyɛ ɛhɔ abom.</p> Signup and view all the answers

Dɛn na ɛyɛ pɛpɛɛpɛ a ɛda ho adi sɛ ɔtɔfɛ mu ɛyɛ thalassemia?

<p>Ɛyɛ ɔhyɛ a ɛda ho adi sɛ nkuto bɔ brɛ na ɛyɛ nsɛm a ɛda ho adi.</p> Signup and view all the answers

Nkwa engebe i bwete sekwens, na ma fu na ɓa mwangha sekwens ɓe β globin normal?

<p>Ngewoneka na database NCBI.</p> Signup and view all the answers

Ɔkwankyerɛbɔ a ɛda ho adi kɔ akwan a ɛsar a ɛda ho adi na ɛyɛ thalassemia?

<p>Wɔyɛ sɛ ɛbɔ nkuto na ɛda ho adi na ɛda a wopɛ fa tɔn ho.</p> Signup and view all the answers

Nsim tuva engebe i mwangha na nsukani akana asam amino?

<p>Kesalahan pada saat splicing.</p> Signup and view all the answers

Pɛn nkuto a ɛda ho adi ɛfa β globin ho?

<p>Nkuto a ɛda ho adi fa β globin ho no yɛ nsɛm a ɛyɛ ɔkwankyerɛ a ɛnkɔ mmerɛdawa.</p> Signup and view all the answers

Thalassemia e bi kosi yî pî wûk?

<p>Thalassemia e bi kosi wâsô bi nsôfîk mî yî e mo kâ vî.</p> Signup and view all the answers

Ko muèn mu imbo ɓe β globin ekson 1, hɛn bɔrɛ?

<p>MVHLTPEEKSAVTALWGKVNVDEVGG.</p> Signup and view all the answers

Mî kâ kwî Îyôntî bi β globin protein?

<p>Kwî Îyôntî bi β globin protein e kôn muh, yî pî e mo yè mî kâ vî.</p> Signup and view all the answers

Tuva ɓe mwangha i mu minate na sekuensing tuva i ɓe β globin?

<p>Hasil sekuensing tidak menunjukkan perubahan asam amino secara in silico.</p> Signup and view all the answers

Nkuto a ɛbɔ som a ɛda ho adi fa thalassemia ho?

<p>Nkuto a ɛda ho adi fa thalassemia ho no yɛ nsɛm a ɛda ho adi na ɛyɛ ξ.</p> Signup and view all the answers

Nîkỳ gûy di yí bô dî tîy ontôsô kâ wâstî yî kwî mutasi?

<p>Nîkỳ gûy di yí bô tîy yî ũ kâ yî îtî, yî pî tîy kâ vî.</p> Signup and view all the answers

Ko njamba i NIKEN SATUTI NUR HANDAYANI na ANDIKA TRIPRAMUDYA ONGGO ɓe mwangha?

<p>Penelitian ini fokus pada evaluasi sekuens β globin.</p> Signup and view all the answers

E wâ tîkî yî tî mî kâ tisô di 1st exon β globin gene?

<p>E wâ tîkî yî mî kâ tisô di 1st exon β globin gene e bi tfô bo e hâ.</p> Signup and view all the answers

Mî kâ sɛb kî ṅêgâk mî e mî wông mêkhî yî kwî don't?

<p>Mî kâ sɛb kî ṅêgâk mî e mî wông mêkhî yî kwî di sî e mî hên.</p> Signup and view all the answers

Nḓok sa njamba ɓe mboa na mwangha sekwens i ɓe β globin?

<p>Nukleotida yang tertera terlihat menyusut pada waktu splicing.</p> Signup and view all the answers

Kî mî kâ pîyîk pî nî dîtîkî yî kwî nâbi me mî?

<p>Kî mî kâ pîyîk pî nî dîtîkî yî kâ pî kwî sî mî yî, yî pî e ə.</p> Signup and view all the answers

Mî kâ yâ nkɔn yî e dîwûkî mî kwî yî mî bôkô?

<p>Mî kâ yâ nkɔn yî e dîwûkî mî bôkô kî mî yâ mî, yî pî e tî.</p> Signup and view all the answers

Kwî nsɔ́gî e kî dî mî kâ lû ôso tî?

<p>Kwî nsɔ́gî e kî dî mî kâ lû ôso tî, yî mî pî tâ.</p> Signup and view all the answers

Mwad a ngey yeng a mutasi transversi ne?

<p>Mutasi transversi a yeng a nukleotida purin a ngey kappa va nukleotida pirimidin.</p> Signup and view all the answers

Ndag a mu mabud kappa mutasi diam?

<p>Mu mabud kappa mutasi diam a ngey o a nanga asam amino.</p> Signup and view all the answers

Kappa a mutasi yeng a intron ngey ekson?

<p>Mutasi yeng a intron a potong na ngey ekson mban a gen.</p> Signup and view all the answers

Nda yeng a Tanoto Foundation a nbasa lolo ne?

<p>Tanoto Foundation a nganga pendanaan na nanga penelitian &amp; publikasi.</p> Signup and view all the answers

Ndag a yeng a kappa mban no yeng a β-thalassemia?

<p>β-thalassemia a yeng a nganga mutasi na gene.</p> Signup and view all the answers

Mutasi pada gen β globin yang berhasil diidentifikasi dalam penelitian ini terdapat pada nukleotida berapa saja?

<p>Nukleotida ke 59 dan ke 147.</p> Signup and view all the answers

Apa jenis mutasi yang terjadi di nukleotida ke 59 dan ke 147?

<p>Di nukleotida ke 59 terjadi mutasi transisi, sementara di nukleotida ke 147 terjadi mutasi transversi.</p> Signup and view all the answers

Mengapa analisis struktur tiga dimensi tidak dilakukan dalam penelitian ini?

<p>Karena alel mutan tidak menyebabkan perubahan asam amino yang dikode.</p> Signup and view all the answers

Sampel manakah yang memiliki mutasi pada intron gen β globin di site ke 59?

<p>Sampel 14, 16, 17, 18, 20, dan 21.</p> Signup and view all the answers

Mengapa penting untuk melakukan penelitian lebih lanjut secara in vivo?

<p>Untuk mengetahui apakah mutasi pada intron gen β globin ekson 1 mengakibatkan kesalahan splicing.</p> Signup and view all the answers

Dari wilayah mana mutasi pada nukleotida ke 59 sering ditemukan lainnya?

<p>Wilayah Thailand.</p> Signup and view all the answers

Siapa yang diucapkan terima kasih dalam penelitian ini?

<p>Dr. Niken Satuti Nur Handayani, Dra. Rarastoeti Pratiwi, dan Dr. biol. hom. Nastiti Wijayanti.</p> Signup and view all the answers

Apa tipe mutasi yang terjadi pada nukleotida ke 59?

<p>Mutasi berjenis silent mutation.</p> Signup and view all the answers

Flashcards

Thalassemia

A genetic disorder causing deficient hemoglobin synthesis, leading to anemia.

Autosomal recessive

A genetic trait requiring two copies of a mutated gene for expression.

β-globin gene

A gene responsible for producing β-globin protein, essential for hemoglobin.

Genomic isolation

Extracting genetic material (DNA) from a sample for study.

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Nucleotide mutation

A change in the sequence of nucleotides in a DNA molecule.

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Point mutation

A type of mutation where a single nucleotide is replaced by another.

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Transition mutation

A point mutation where a purine replaces a purine, or a pyrimidine replaces a pyrimidine.

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Transversion mutation

A point mutation where a purine replaces a pyrimidine or vice-versa.

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Mutasi diam

Jenis mutasi di mana tidak ada perubahan pada asam amino yang diterjemahkan meskipun terjadi perubahan pada urutan nukleotida.

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Protein β globin

Protein yang berperan dalam pembentukan hemoglobin.

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Ekson 1

Bagian dari gen yang ditranskripsi dan ditranslasi menjadi protein.

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Mutasi gen HBB

Perubahan pada gen HBB yang menyebabkan thalasemia.

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Sekuencing

Metode untuk menentukan urutan nukleotida dalam suatu DNA.

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Thalasemia β

Jenis thalasemia yang diakibatkan oleh mutasi pada gen β-globin.

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kromosom nomor 11

Kromosom tempat gen HBB terletak.

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Mutasi Titik

Perubahan tunggal dalam urutan DNA, yang mengganti satu nukleotida dengan yang lain.

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Mutasi Transversi

Mutasi titik di mana sebuah purin digantikan oleh pirimidin, atau sebaliknya.

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Intron

Bagian dari gen yang tidak diterjemahkan menjadi protein, dipisahkan dari ekson sebelum translasi.

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Gen β globin

Gen yang mengkode protein β globin, tersusun dari ekson dan intron.

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Alignment (Penjajaran)

Proses pencocokan basa-basa nukleotida dari sekuens gen.

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Database gen NCBI

Bank data sekuens gen yang digunakan sebagai acuan untuk membandingkan sekuens.

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Sekuens gen β globin ekson 1

Urutan nukleotida spesifik pada ekson 1 gen β globin.

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Splicing

Proses penggabungan ekson dan penghilangan intron selama pematangan mRNA.

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Kesalahan splicing

Proses kesalahan yang terjadi pada splicing yang dapat menyebabkan kesalahan penyandian asam amino.

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Urutan asam amino gen normal β-globin ekson 1

Urutan asam amino yang dihasilkan dari translasi gen β-globin ekson 1 yang normal, diambil dari database NCBI.

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Mutasi gen β-globin

Perubahan pada urutan nukleotida gen β-globin yang dapat mengakibatkan perubahan pada urutan asam amino protein β-globin.

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MCV, MCH, GDT, HPLC

Parameter hematologis yang digunakan untuk mendeteksi pembawa sifat thalasemia.

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Mutasi gen β globin ekson 1

Perubahan pada urutan DNA di dalam gen β globin, khususnya di ekson 1.

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Urutan Asam Amino Gen β-globin

Urutan spesifik dan berurutan dari asam amino yang membangun protein globin β

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Database NCBI

Sumber data untuk urutan gen normal β-globin

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Silent mutation

Mutasi yang tidak menyebabkan perubahan asam amino yang dikode.

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Nukleotida ke 59

Lokasi spesifik pada urutan DNA di gen β globin ekson 1 dimana terjadi mutasi.

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Nukleotida ke 147

Lokasi spesifik pada gen β globin ekson 1 dimana terjadi mutasi.

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Analisis menggunakan MEGA 6.0

Perangkat lunak yang digunakan untuk menganalisis data urutan DNA.

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Alignment keseluruhan

Proses pencocokan dan perbandingan urutan DNA dari berbagai contoh.

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Study Notes

Thalassemia Identification

  • Thalassemia is an autosomal recessive genetic mutation disorder causing deficient globin chain synthesis (hemoglobin component in red blood cells).
  • It's classified by abnormalities in the protein structure of globin (especially beta globin).
  • In Indonesia, beta thalassemia prevalence is increasing by 8-10% yearly, requiring strategies to reduce this.
  • Genetic testing to identify carriers efficiently reduces the thalassemia population.
  • Identifying mutations in the first exon of the beta globin gene helps to detect carriers quickly.
  • This study focused on the type and location of nucleotide mutations in the beta globin exon 1 of carriers.
  • The research used sequencing to determine the type of mutation and changes to the amino acid translation.
  • A point mutation was found at nucleotide 59 (T to C) and 147 (G to C), but it's "silent" because there's no translated amino acid change.

Thalassemia Background

  • Thalassemia is characterized by a deficiency in hemoglobin, causing symptoms similar to anemia.
  • In thalassemia, the hemoglobin in red blood cells doesn't properly bind oxygen, causing fatigue due to low oxygen levels.
  • It's classified based on the type of globin protein affected (alpha or beta).
  • Alpha thalassemia affects alpha globin, while beta thalassemia affects beta globin.
  • In Indonesia, the prevalence of thalassemia, especially beta thalassemia, is increasing steadily (8-10% annually), highlighting the need for intervention strategies.

Methodology

  • Blood samples were collected for genome isolation.
  • The first exon of the beta globin gene was amplified and sequenced.
  • Computational methods (comparative alignment with a normal beta globin gene) were used to observe point mutations and amino acid changes.
  • Sequence alignment was used to compare with a normal beta globin sequence to determine the nature of the mutation.

Results

  • Mutations were found at positions 59 (T to C) and 147 (G to C) in the beta globin gene.
  • The detected mutation types are "silent mutations," meaning no alterations in the translated amino acids occurred.
  • The findings support the significance of sequencing for identifying specific thalassemia mutations in carriers.

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Identifikasi Mutasi Gen β Globin Ekson 1 Pada Pembawa Thalassemia PDF

Description

This quiz focuses on the identification methods of thalassemia, a genetic disorder affecting hemoglobin synthesis. Students will learn about the mutations in the beta globin gene and the implications of genetic testing. It also covers the prevalence of beta thalassemia in Indonesia and the significance of identifying carriers.

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