scholarly journals Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment

Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2395
Author(s):  
Hsin-Lin Chen ◽  
Pei-Hsuan Lin ◽  
Yu-Ting Chiang ◽  
Wen-Jie Huang ◽  
Chi-Fang Lin ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Preimplantation Genetic Diagnosis ◽  
Quantitative Polymerase Chain Reaction ◽  
Genomic Medicine ◽  
Genetic Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Mutation System ◽  
Sensorineural Hearing Impairment ◽  
History Of ◽  
Hereditary Hearing Impairment

Sensorineural hearing impairment is a common sensory deficit in children and more than 50% of these cases are caused by genetic etiologies, that is, hereditary hearing impairment (HHI). Recent advances in genomic medicine have revolutionized the diagnostics of, and counseling for, HHI, including preimplantation genetic diagnosis (PGD), thus providing parents-to-be with better reproductive choices. Over the past decade, we have performed PGD using the amplification refractory mutation system quantitative polymerase chain reaction (ARMS-qPCR) technique in 11 couples with a history of HHI, namely eight with GJB2 variants, one with OTOF variants, one with SLC26A4 variants, and one with an MITF variant. We demonstrated that PGD can be successfully applied to HHI of different inheritance modes, namely autosomal dominant or recessive, and phenotypes, namely syndromic or non-syndromic HHI. However, certain ethical concerns warrant scrutiny before PGD can be widely applied to at-risk couples with a history of HHI.

Common Mutation of Plasminogen Detected in Three Asian Populations by an Amplification Refractory Mutation System and Rapid Automated Capillary Electrophoresis

1999 ◽  
Vol 82 (10) ◽  
pp. 1342-1346 ◽  
Author(s):  
Asako Ooe ◽  
Masafumi Kida ◽  
Tomio Yamazaki ◽  
Sang-Chul Park ◽  
Hideo Hamaguchi ◽  
...  
Keyword(s):  
Capillary Electrophoresis ◽  
Genetic Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Gene Frequencies ◽  
Chinese Populations ◽  
Asian Populations ◽  
Congenital Deficiency ◽  
Its Gene ◽  
Mutation System

SummaryCongenital deficiency and dysfunction of plasminogen (PLG) are associated with a mild thrombotic tendency. To facilitate the genetic diagnosis of dysPLGemia, we combined an amplification refractory mutation system and rapid automated capillary electrophoresis. Two different fluorescence-labeled PLG-specific primers for exon XV were designed so that each DNA amplified by PCR showed fluorescence of a different wavelength. Single peaks were detected for the normal and the mutant Ala601-Thr alleles, respectively. A study of 90 normal Caucasians revealed no individuals with the mutation, whereas its gene frequency was 0.021 in Japanese. This mutation was also detected in Korean and Chinese populations at gene frequencies of 0.016 and 0.015, respectively. All of the Korean and Chinese cases with the mutation had at least one haplotype I of the PLG gene, as did most Japanese cases. The high frequency of the Ala601-Thr mutation among these Asian populations may be due to the founder effect.

scholarly journals Prevalence of Calreticulin exon 9 Mutation in Iranian Cardiovascular Patients

2021 ◽  
Vol 9 (1) ◽  
pp. 20-20
Author(s):  
Mohammad Javad Mohammad Taghi Zade ◽  
Najmaldin Saki ◽  
Habib Heybar
Keyword(s):  
Risk Factors ◽  
Cardiac Development ◽  
Amplification Refractory Mutation System ◽  
Specific Gene ◽  
Cvd Risk ◽  
Transcription Factor Activation ◽  
Mutation System ◽  
History Of ◽  
Exon 9 ◽  
Calr Mutations

Background: Calreticulin (CALR) is a 46 kDa protein in the endoplasmic reticulum and is one of the major proteins in ca2+ binding; it has a key role in oxidative stress, transcription factor activation, and as a chaperone in newly synthesized protein and glycoprotein folding. The high expression of CALR is pivotal for cardiac development in the embryonic period. It has been showed that mutation in exon 9 of CALR causes loss of C-terminal function and contributes to cardiovascular disease (CVD) development. Objective: It could conceivably be hypothesized that in addition to the general risk factors, the specific gene defects which are less considered can contribute to CVD development. In this regard in this study the possible existence of CALR mutations in CVD development is determine in patients younger than 40. Method: Thirty patients younger than 40 were recruited for this study, 86.7% (26) were male, and just 13.3% (4) were female. The amplification refractory mutation system-PCR was used to identified mutation in exon 9. The CVD risk factors, including blood pressure, type 2 diabetes, dyslipidemia, history of smoking, alcohol drinking, and familial CVD development were evaluated. Result: In none of the patients, CALR mutations were detected. Since CALR defect causes accumulation of glycogen in the heart's cells and contributes to CVD development, our results confirm this, so that 76.7% of patients did not have diabetes. Conclusion: The findings of the current study show there is no significant differences between exon 9 CALR mutation and CVD development.

scholarly journals Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population

Genes ◽  
2019 ◽  
Vol 10 (10) ◽  
pp. 772 ◽  
Author(s):  
Wu ◽  
Tsai ◽  
Lin ◽  
Chen ◽  
Lin ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Clinical Features ◽  
Genetic Epidemiology ◽  
Genetic Diagnosis ◽  
Genetic Mutations ◽  
Taiwanese Population ◽  
The Past ◽  
Genetic Examination ◽  
Hereditary Hearing Impairment ◽  
Generation Sequencing

Hereditary hearing impairment (HHI) is a common but heterogeneous clinical entity caused by mutations in a plethora of deafness genes. Research over the past few decades has shown that the genetic epidemiology of HHI varies significantly across populations. In this study, we used different genetic examination strategies to address the genetic causes of HHI in a large Taiwanese cohort composed of >5000 hearing-impaired families. We also analyzed the clinical features associated with specific genetic mutations. Our results demonstrated that next-generation sequencing-based examination strategies could achieve genetic diagnosis in approximately half of the families. Common deafness-associated genes in the Taiwanese patients assessed, in the order of prevalence, included GJB2, SLC26A4, OTOF, MYO15A, and MTRNR1, which were similar to those found in other populations. However, the Taiwanese patients had some unique mutations in these genes. These findings may have important clinical implications for refining molecular diagnostics, facilitating genetic counseling, and enabling precision medicine for the management of HHI.

Preimplantation genetic diagnosis reduces pregnancy loss in women aged 35 years and older with a history of recurrent miscarriages

2005 ◽  
Vol 84 (2) ◽  
pp. 331-335 ◽  
Author(s):  
Santiago Munné ◽  
Serena Chen ◽  
Jill Fischer ◽  
Pere Colls ◽  
Xuezong Zheng ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Pregnancy Loss ◽  
Genetic Diagnosis ◽  
Recurrent Miscarriages ◽  
History Of

scholarly journals Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory

Diagnostics ◽  
2019 ◽  
Vol 9 (2) ◽  
pp. 44
Author(s):  
Liao ◽  
Chang ◽  
Ma ◽  
Chang ◽  
Lin ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Neurodegenerative Diseases ◽  
Embryo Transfer ◽  
Preimplantation Genetic Diagnosis ◽  
Quantitative Polymerase Chain Reaction ◽  
False Negative ◽  
Genetic Diagnosis ◽  
Oocyte Retrieval ◽  
Reference Laboratory ◽  
Inherited Disorders

Preimplantation genetic diagnosis (PGD) has become a crucial approach in helping carriers of inherited disorders to give birth to healthy offspring. In this study, we review PGD methodologies and explore the use of amplification refractory mutation system quantitative polymerase chain reaction (ARMS-qPCR) and/or linkage analysis for PGD in neurodegenerative diseases that are clinically relevant with typical features, such as late onset, and which are severely debilitating. A total of 13 oocyte retrieval cycles were conducted in 10 cases with various neurodegenerative diseases. Among the 59 embryos analyzed, 49.2% (29/59) were unaffected and 50.8% (30/59) were affected. Of the 12 embryo transfer cycles, three resulted in pregnancy, and all pregnancies were delivered. The implantation rate and livebirth rate were 23.1% (3/13) per oocyte retrieval cycle and 25.0% (3/12) per embryo transfer cycle. Allele dropout (ADO) was noted in two embryos that were classified as unaffected by ARMS-qPCR but were evidenced as affected after prenatal diagnosis, rendering the false negative rate as 6.3% (2/32). Four among the 13 cycles underwent PGD by ARMS-qPCR coupled with linkage analysis, and all were correctly diagnosed. We conclude that PGD by ARMS-qPCR and/or linkage analysis is a feasible strategy, whereas ADO is a concern when ARMS-qPCR is used as the sole technology in PGD, especially in autosomal dominant diseases.

Sign in / Sign up

Export Citation Format

Share Document