Carrier screening for single gene disorders

2018 ◽  
Vol 23 (2) ◽  
pp. 78-84 ◽  
Author(s):  
Nancy C. Rose ◽  
Myra Wick
Keyword(s):  
Single Gene ◽  
Carrier Screening ◽  
Single Gene Disorders

scholarly journals Carrier Screening of 400 Variations Related 11 Recessive Diseases in the Daur Ethnicity in China

2020 ◽  
Author(s):  
Qiuyan Li ◽  
Tingting Zhang ◽  
Bonan Dong ◽  
Mansha Jia ◽  
Xueyuan Jia ◽  
...  
Keyword(s):  
Birth Defect ◽  
Large Scale ◽  
Single Gene ◽  
Incidence Rates ◽  
Carrier Screening ◽  
Carrier Rate ◽  
Congenital Hearing Loss ◽  
Single Gene Disorders ◽  
Positive Rate ◽  
Heterozygous Carriers

Abstract Background: Single gene disorders are common diseases that cause birth defect. Carrier screening is an effective method to reduce the affected children with single gene disorders. However, incidence rates and carrier positive rates vary among ethnic groups. Results: In the present study, four hundred alleles associated with 11 recessive disease were detected in the Daur ethnicity of China. Among the 246 individuals, 25 individuals were identified as heterozygous carriers of at least one for 11 recessive disorder, carrier rate was 10.16%. A total of 19 females were carrier positive among 143 individuals with a 13.29% positive rate, however, only 6 out 103 males were carrier positive with a 5.83% positive rate. The most common in the Daur was HLD (2.85%) and congenital hearing loss (2.85%), followed by CAH (2.44%), PKU (1.22%), SMA (0.41%), MMA (0.41%), and X-linked ichthyosis (0.41%). Conclusions: These results estimated the distribution of carrier frequencies in the Daur, and showed that several of these diseases may be considered for inclusion in carrier screening in the Daur population. Further large-scale study should be performed to identified the results.

Synaptic Plasticity as a Therapeutic Target in the Treatment of Autism-related Single-gene Disorders

2013 ◽  
Vol 19 (36) ◽  
pp. 6480-6490 ◽  
Author(s):  
Marco Pignatelli ◽  
Marco Feligioni ◽  
Sonia Piccinin ◽  
Gemma Molinaro ◽  
Ferdinando Nicoletti ◽  
...  
Keyword(s):  
Synaptic Plasticity ◽  
Therapeutic Target ◽  
Single Gene ◽  
Single Gene Disorders

Pathophysiology and therapy for haemoglobinopathies; Part II: thalassaemias

2006 ◽  
Vol 8 (10) ◽  
pp. 1-26 ◽  
Author(s):  
Fabrizia Urbinati ◽  
Catherine Madigan ◽  
Punam Malik
Keyword(s):  
Single Gene ◽  
Globin Gene ◽  
Marrow Transplant ◽  
World Population ◽  
Symptomatic Therapy ◽  
Globin Genes ◽  
Cell Disease ◽  
Critical Function ◽  
Single Gene Disorders ◽  
Clinical Syndromes

Thalassaemias result from mutations of the globin genes that cause reduced or absent haemoglobin production and thus interfere with the critical function of oxygen delivery. They represent the most common single-gene disorders, with 4.83% of the world population carrying globin gene variants. Reduced or absent α-globin (α-thalassaemia) or β-globin (β-thalassaemia) leads to anaemia and multifaceted clinical syndromes. In this second of two reviews on the pathophysiology of haemoglobinopathies, we describe the clinical features, pathophysiology and molecular basis of α- and β-thalassaemias. We then discuss current targeted therapies, including the new oral iron chelators, which, along with chronic transfusions, constitute the mainstay of symptomatic therapy for the majority of patients. Finally, we describe potentially curative therapies, such as bone marrow transplant, and discuss some of the outstanding research studies and questions, including the upcoming field of gene therapy for β-thalassaemia. An accompanying article on haemoglobinopathies (Part I) focuses on sickle cell disease.

Sex chromosomes-linked single-gene disorders involved in human infertility

2019 ◽  
Vol 62 (9) ◽  
pp. 103560
Author(s):  
Ines Jedidi ◽  
Mouna Ouchari ◽  
Qinan Yin
Keyword(s):  
Sex Chromosomes ◽  
Single Gene ◽  
Single Gene Disorders

Does the ADA Provide Protection Against Discrimination on the Basis of Genotype?

1995 ◽  
Vol 23 (2) ◽  
pp. 167-172 ◽  
Author(s):  
Joseph S. Alper
Keyword(s):  
Americans With Disabilities Act ◽  
Genetic Disorder ◽  
Single Gene ◽  
Genetic Discrimination ◽  
Healthy Individuals ◽  
Multifactorial Diseases ◽  
Total Incidence ◽  
Single Gene Disorders ◽  
Near Future ◽  
The U.S

As a consequence of the problems caused by genetic discrimination, federal and state law makers are being pressured to pass a legislative remedy. A primary question is whether the Americans with Disabilities Act of 1990 (ADA) applies to (1) individuals with a potentially disabling genetic disorder who are pre-symptomatic or asymptomatic and may never become ill and to (2) healthy individuals who are carriers of genetic conditions. At present, this question has relevance principally for individuals with the genotype for single gene disorders, like Huntington disease and hemochromatosis, and to asymptomatic carriers of single gene disorders such as cystic fibrosis. Although many such single gene conditions exist, the total incidence of these conditions in the U.S. population is less than 0.4 percent. However, the question concerning the applicability of the ADA will become increasingly important because genetic tests will almost certainly be developed in the near future for common multifactorial diseases like diabetes, heart disease, and certain forms of cancer.

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