Thalassemia Identification Quiz

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Questions and Answers

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

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