Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family

Khan, Haq Nawaz; Wasim, Muhammad; Ayesha, Hina; Awan, Fazli Rabbi

doi:10.1007/s11033-018-4426-y

Cited by 8 publications

(5 citation statements)

References 23 publications

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“…Because of its reliability, simplicity, and low cost, T‐ARMS‐PCR has been widely used to detect SNPs and mutations in recent years . Using the four T‐ARMS‐PCR primers designed by PRIMER1 software, we found that the inner primer of the T allele did not have specificity (data not shown) because all the tested samples had the corresponding band of the T allele, but the T allele was rare in Chinese subjects .…”

Section: Discussionmentioning

confidence: 94%

Development and validation of T‐ARMS‐PCR to detect CYP2C19*17 allele

Jin

Zheng

et al. 2019

Clinical Laboratory Analysis

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Background: CYP2C19*17 (rs12248560) is a functional single nucleotide polymorphism (SNP) in the CYP2C19 gene. It has been shown that CYP2C19*17 is associated with the clinical outcome of some drugs metabolized by CYP2C19 and a decreased risk of some diseases. The aim of this study was to develop a reliable and simple method to detect this polymorphism.Methods: Tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) was used to detect the CYP2C19*17 polymorphism. A total of 93 samples were screened by this method, and the results of T-ARMS-PCR were validated by DNA sequencing. Results: Therewere91sampleswiththeCCgenotype(97.8%)andtwosampleswith theCTgenotype(2.2%).ThefrequencyoftheCallelewas98.9%,andthefrequency oftheTallelewas1.1%.TheDNAsequencingresultswerecompletelyconcordant with the T-ARMS-PCR results. Conclusion: T-ARMS-PCR can detect the CYP2C19*17 polymorphism with high accuracy, low costs, and a simple process.

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Section: Discussionmentioning

confidence: 94%

Development and validation of T‐ARMS‐PCR to detect CYP2C19*17 allele

Jin

Zheng

et al. 2019

Clinical Laboratory Analysis

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“…The correlation between genotype and phenotype for these variants is controversial. While some papers document severe neurological impairment and K–F rings in patients during the first or early second decade of life, others report hepatic presentations [ [24] , [25] , [26] , [27] , [28] ]. It is worth mentioning that most studies have reported a lack of correlation between ATP7B gene variants and the phenotype.…”

Section: Genotype-phenotype Correlationmentioning

confidence: 99%

The mutation spectrum and ethnic distribution of Wilson disease, a review

Beyzaei,

Mehrzadeh,

Hashemi

et al. 2024

Molecular Genetics and Metabolism Reports

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“…In this assay, two sets of primers are used, both are respective allele specific: one being mutant allele specific and other being specific to reference or normal allele. [62,63]…”

Section: Arms-pcr Assaymentioning

confidence: 99%

“…Several nations are screening different IEMs according to their prevalence in that population [83,84] as presented in Table 3 with three most prevalent groups of disorders. In our country (Pakistan), there is no newborn screening program yet available for the screening of inherited metabolic disorders, hence we are making efforts to establish NBS in our country, [9,42,45,62,[85][86][87][88][89] although scarce data are available on such disorders in Pakistan. [9,62,[85][86][87][88][90][91][92][93][94] On the other hand, reports from Pakistan show that burden of inherited disorders is quite high due to consanguinity, hence there is a dire need to develop a NBS program, which can help to minimize the burden of such disorders from the society especially focus on aminoacidopathies, organic acidemias, and fatty acid oxidation disorders.…”

Section: Efforts To Initiate Nbs Program In Asian and Other Countriesmentioning

confidence: 99%

Need and Challenges in Establishing Newborn Screening Programs for Inherited Metabolic Disorders in Developing Countries

et al. 2023

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Even in this post genomic era, no national level newborn screening (NBS) programs for inborn errors of metabolism (IEMs) are yet available in several developing countries including Pakistan. Through NBS, various IEMs can be screened using minute quantities of biofluids. Targeted metabolomics and genomic techniques are the main approaches used for NBS. However, lack of technical expertise and such high-end "omics" based analytical facilities, and meager funding for healthcare in developing countries are the major reasons for unavailability of NBS programs. As it is reflected by only a handful reports about IEMs from Pakistan with population of ≈220 million and consanguinity rate of about 70%, which suggests an unmet need for an NBS program owing to reasonably high prevalence of inherited diseases. Around 200 IEMs are potentially treatable if diagnosed at an earlier stage through biochemical marker and genetic screening, so such patients can get benefit from the NBS program. This overview will help to persuade the stakeholders to setup NBS programs in developing countries including Pakistan, due to multitude of benefits for IEMs; timely diagnosis and early treatment can help the patients to live a nearly healthy life, reduced suffering of the family and minimal burden on society or national healthcare system.

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Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family

Cited by 8 publications

References 23 publications

Development and validation of T‐ARMS‐PCR to detect CYP2C19*17 allele

Development and validation of T‐ARMS‐PCR to detect CYP2C19*17 allele

The mutation spectrum and ethnic distribution of Wilson disease, a review

Need and Challenges in Establishing Newborn Screening Programs for Inherited Metabolic Disorders in Developing Countries

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