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Home > Mutation Spectrum in Pakistani Patients With Inherited Metabolic Disorders

Mutation Spectrum in Pakistani Patients With Inherited Metabolic Disorders

Thesis Info

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Author

Zubaida, Bibi

Program

PhD

Institute

Quaid-I-Azam University

City

Islamabad

Province

Islamabad.

Country

Pakistan

Thesis Completing Year

2019

Thesis Completion Status

Completed

Subject

Medical Genetics

Language

English

Link

http://prr.hec.gov.pk/jspui/bitstream/123456789/11366/1/Bibi_zubaida_Biotechnology_2019_QAU_12.11.2019.pdf

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676726738688

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Inherited metabolic disorders constitute a diverse class of genetic diseases caused by impairment in biochemical processes because of defective enzymes or transporters consequent upon which compromised conversion of substrate into the product takes place. These disorders are manifested phenotypically with a wide overlapping spectrum of signs and symptoms that could either be due to accumulation of toxic upstream substrates, insufficient production of downstream products or abnormal alternative substrate metabolism. Biochemical and molecular investigations help in diagnosis of hereditary metabolic disorders and that if attempted early, could improve therapeutic outcome in some cases. The current study was performed to investigate the spectrum of genetic variants in Pakistani patients with inherited metabolic disorders. A cohort of sixty-eight patients was enrolled in the study from local hospitals. Twenty-five of these patients were diagnosed with inherited unconjugated hyperbilirubinemias, one with GM1 gangliosidosis, nineteen with various types of mucopolysaccharidoses (MPS), and twenty-three with Wilson’s disease. Genomic DNA samples of these patients were subjected to Sanger sequencing of respective genes. The identified variants were confirmed in families of the patients for segregation. Sequence analysis of UGT1A1 in twenty-five patients diagnosed with inherited unconjugated hyperbilirubinemias identified 16 different variants, six of which were novel. The c.622-625dupCAGC and c.1021C>T were the most frequently observed UGT1A1 variants. DNA sequencing of GLB1 in one patient diagnosed with GM1 gangliosidosis identified a novel homozygous 2-bp deletion c.881-882delAT (p.Tyr294Terfs) in exon 8. Among nineteen patients diagnosed with various types of mucopolysaccharidoses during the study period, MPS type I was the most prevalent phenotype. DNA sequencing of IDUA in MPS type I patients revealed a diverse spectrum of variants spanning the whole gene. A missense variant c.1469T>C (p.Leu490Pro) was the most common variant identified in five patients in homozygous condition. Mutations identified in other MPS types were all private mutations and include c.1006+1G>C, c.1165C>T in IDS, c.531+5G>A in NAGLU, c.902G>A, c.1175C>T, c.IVS4-1G>A in GALNS and c.511-512delGG in ARSB. DNA sequencing in a cohort of twenty-three Wilson’s disease patients identified a diverse spectrum of 18 ATP7B variants spanning over the whole gene. The mutation detection rate was 71.7% and seven of the identified variants were novel. The most frequently observed ATP7B variant was c.3809A>G followed by c.3182G>A. To our knowledge, this is the first comprehensive study of inherited metabolic disorders from Pakistan. It should be helpful in neonatal screening, improved genetic counseling, and prenatal diagnosis in the affected families.
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خیر العمل

خیر العمل
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بہار کے قافلے کی ساربانی کرتے ہوئے!
اک مسافر زیتون و صنوبر کے گیت گائے جا رہا تھا
حر فِ سحر میں آب بقاکی لذتوںکو۔۔۔!
خوشبو کی شدتوں میں۔۔۔شبنم کے زائچوں کو سمو کر!
اک مسافر پیپل اور کھجور کی سبز شاخیں لیے!
سبز موسم کے عابدوں،صندلی معبدوں کا طواف کیے جار رہا تھا

قدیم سنبلہ کے پہلو میں!
ناہید، زہرہ۔۔۔درگا دل فریبی سے اتر رہی تھی
گاتھا، اوستا کی مٹی میں
صحرا کی ریت ملاتے ہوئے!
وینس آب حیات میں گوندہ رہی تھی
بہار کی خوب صورت راہوں پر خمار میں ڈوبی ناقہ!
محملوں کی روایتوں کا مفہوم بدلتے ہوئے چل رہی تھی
کوئی عصر یونان کی بستیوں میں!
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اک مسافر پاتال کی گرھیں کھولتے ہوئے!
خیرالعمل کی آیتیں سنائے جا رہا تھا
سبز موسم کے عابدوں ، صندلی معبدوں کا طواف کیے جا رہا تھا

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صحرا میں بہار کی اسیری کا قصہ لکھتے ہوئے چھوڑ گئے تھے
وہیں اِک ایوان دل میں!
مسافر حسن کے تعاقب میں!
لذت لمس کو لوح کنعان سے منکشف کیے جا رہا تھا
سبز موسم کی خانقاہوں، صندلی معبدوں کا طواف کیے جا رہا تھا۔۔۔

ستاروں کے زائچے میں !
ارباب جنوں کی تاثیر گردش کر رہی تھی
تاریک کمرے میں رتجگوں کی داستاں!
درد کی بندگی میں متاع بسمل کے ساتھ۔۔۔!
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