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Genetic Study of Susceptible Gene Involved in Kidney Stone Formation in Pakistani Families

Thesis Info

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Author

Iram Lohdi

Institute

Virtual University of Pakistan

Institute Type

Public

City

Lahore

Province

Punjab

Country

Pakistan

Thesis Completing Year

2018

Thesis Completion Status

Completed

Subject

Software Engineering

Language

English

Link

http://vspace.vu.edu.pk/detail.aspx?id=188

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676720988785

Similar


In the gene vitamin D receptor (VDR) the polymorphisms have been reported by several studies to be linked with urolithiasis in various ethnic groups worldwide. This is preliminary report of investigating the role of VDR gene polymorphism in infantile urolithiasis in Punjabi population of Pakistan. In the present study, we examined the VDR gene polymorphism (TaqI) on PCR-RFLP based in seven families with positive family history of renal stone formation from Punjab province of Pakistan. The analysis showed that the single nucleotide polymorphism (SNP) followed HWE that p > 1.00. The allelic and genetic frequency varied significantly among patients and controls. Controls were with higher frequency of TT genotype whereas patients were with both CT and CC genotype. Genotype CT Taq-I and CC Taq-I demonstrated significantly higher risk (?2=57.778, df=2, ?2/df=28.89, P(?2 > 57.778) = 0.0000). Variant C allele of Taq-1 polymorphism exhibited higher risk (?2=60.379, df=1, ?2/df=60.38,P(?2 > 60.379) =0.0000). Therefore it was observed that Taq-I polymorphic site on VDR gene was significantly associated with the urolithiasis in studied patients (p< 0.01). Further, patients with combination of CC and CT of Taq-I increase the risk of renal stone. Overall, the present results suggested the Taq-1 VDR genotype could be candidate gene leading to infantile urolithiasis.
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صباح الدین عمر

صباح الدین عمر
افسوس ہے کہ اردو کے ایک عاشق و شیدائی جناب صباح الدین عمر کا انتقال ہوگیا، وہ لکھنؤ کی روایات کے بڑے دلدادہ اور اس کی تہذیب و ثقافت کا نمونہ تھے، وہ سرکاری ملازم تھے، یوپی کے محکمہ اطلاعات کے اردو ماہنامہ ’’نیادور‘‘ کے ایڈیٹر بھی رہے، اترپردیش اردو اکادمی کے قیام کے بعد اس کے سکریٹری ہوئے اور اس کا رسالہ اکادمی ان کی ادارت میں شائع ہوا، ریٹائرڈ ہونے کے بعد اردو اکادمی اور فخرالدین علی احمد میموریل کمیٹی کے برابر رکن رہے اور ان کو اپنے مشوروں اور تجربوں سے بڑا فائدہ پہنچایا، طبعاً شریف اور مخلص تھے، دوسروں کی مدد کرکے خوشی محسوس کرتے تھے، اﷲ تعالیٰ اردو کے اس عاشق و خادم کی مغفرت فرمائے، آمین!! (ضیاء الدین اصلاحی۔ دسمبر ۱۹۹۱ء)

 

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This study aims to determine the implementation of special character education on the impact for students and school components at Madrasah Aliyah Negeri (MAN) Insan Cendekia Gorontalo. This research method is a qualitative field research. Data collection was carried out through preliminary or pre-observational studies, observations, and interviews. The characters developed in this madrasa include disciplined, religious, polite, responsible, hard work and cooperation. In other words, this character development is carried out in the madrasah program of activities both through learning, as well as extra ¬ curricular as well as religious and self-development activities. The impact of the results of the implementation of character education at MAN Insan Cendekia Gorontalo has a positive impact for all groups, especially for students and the school community. The impact of character education for school components. The implementation of character education at MAN Insan Cendekia Gorontalo is very beneficial for students, due to changes in attitudes that are even better and according to the expectations of parents, where their children live disciplined, productive, independent and able to practice religious teachings.

Genetic Study of Susceptible Gene Involved in Kidney Stone Formation in Pakistani Families

In the gene vitamin D receptor (VDR) the polymorphisms have been reported by several studies to be linked with urolithiasis in various ethnic groups worldwide. This is preliminary report of investigating the role of VDR gene polymorphism in infantile urolithiasis in Punjabi population of Pakistan. In the present study, we examined the VDR gene polymorphism (TaqI) on PCR-RFLP based in seven families with positive family history of renal stone formation from Punjab province of Pakistan. The analysis showed that the single nucleotide polymorphism (SNP) followed HWE that p > 1.00. The allelic and genetic frequency varied significantly among patients and controls. Controls were with higher frequency of TT genotype whereas patients were with both CT and CC genotype. Genotype CT Taq-I and CC Taq-I demonstrated significantly higher risk (?2=57.778, df=2, ?2/df=28.89, P(?2 > 57.778) = 0.0000). Variant C allele of Taq-1 polymorphism exhibited higher risk (?2=60.379, df=1, ?2/df=60.38,P(?2 > 60.379) =0.0000). Therefore it was observed that Taq-I polymorphic site on VDR gene was significantly associated with the urolithiasis in studied patients (p< 0.01). Further, patients with combination of CC and CT of Taq-I increase the risk of renal stone. Overall, the present results suggested the Taq-1 VDR genotype could be candidate gene leading to infantile urolithiasis.