scholarly journals The Colorado Adoption Project

2012 ◽  
Vol 16 (1) ◽  
pp. 358-365 ◽  
Author(s):  
Sally-Ann Rhea ◽  
Josh B. Bricker ◽  
Sally J. Wadsworth ◽  
Robin P. Corley
Keyword(s):  
Longitudinal Study ◽  
Molecular Genetic ◽  
Lifespan Development ◽  
Adoption Process ◽  
Genetic Investigation ◽  
Adoption Study ◽  
Use Of Data ◽  
Adoption Design ◽  
Behavioral Genetic Study ◽  
Colorado Adoption Project

This paper describes the Colorado Adoption Project (CAP), an ongoing genetically informative longitudinal study of behavioral development. We describe the features of the adoption design used in CAP, and discuss how this type of design uses data from both parent–offspring and related- versus unrelated-sibling comparisons to estimate the importance of genetic and shared environmental influences for resemblance among family members. The paper provides an overview of CAP's history, how subjects were ascertained, recruited, and retained, and the domains of assessment that have been explored since the CAP's initiation in 1975. Findings from some representative papers that make use of data from CAP participants illustrate the study's multifaceted nature as a parent–offspring and sibling behavioral genetic study, a study that parallels a complimentary twin study, a longitudinal study of development, a source of subjects for molecular genetic investigation, and a study of the outcomes of the adoption process itself. As subjects assessed first at age 1 approach age 40, we hope the CAP will establish itself as the first prospective adoption study of lifespan development.

Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism

2020 ◽  
Vol 33 (6) ◽  
pp. 691-701 ◽  
Author(s):  
Tatsushi Tanaka ◽  
Kohei Aoyama ◽  
Atsushi Suzuki ◽  
Shinji Saitoh ◽  
Haruo Mizuno
Keyword(s):  
Congenital Hypothyroidism ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Japanese Patients ◽  
Thyroid Stimulating Hormone ◽  
Allelic Variant ◽  
Genetic Investigation ◽  
Pathogenic Variants ◽  
Recessive Genes ◽  
Molecular Genetic Diagnosis

AbstractObjectivesCongenital hypothyroidism (CH) is the most common congenital endocrine disorder. Recent advances in genetic testing have revealed its causative mutations in some CH patients. However, the underlying etiology remains unknown in most patients. This study aimed to perform clinical and genetic investigation in Japanese CH patients to uncover genotype-phenotype correlations.MethodsWe enrolled 136 Japanese patients with transient or permanent CH between April 2015 and March 2017, and performed next-generation sequencing of 19 genes implicated in CH.ResultsWe identified potentially pathogenic bi-allelic variants in DUOX2, TSHR, and TPO in 19, 5, and 1 patient, respectively (autosomal recessive), and a potentially pathogenic mono-allelic variant in NKX2-1 (autosomal dominant) in 1 patient. Molecular genetic diagnosis was highly suggested in 26 patients (19%) from 23 families. We also detected a potentially pathogenic mono-allelic variant in five recessive genes (DUOX2, TSHR, TG, DUOXA2, and TPO) in 31 unrelated patients (23%), although the pathogenicity of these variants remains inconclusive. Patients with bi-allelic DUOX2 variants showed a more severe clinical presentation in infancy than those with bi-allelic TSHR variants. However, this trend reversed beyond infancy. There were no statistical differences in initial thyroid stimulating hormone, free thyroxine, thyroglobulin, and levothyroxine dose as of March 2017 between patients with bi-allelic and mono-allelic DUOX2 variants.ConclusionsThe prevalence of potentially-pathogenic variants in Japanese CH patients was similar to that found by previous reports. Our study demonstrates a genotype-phenotype correlation in Japanese CH patients.

A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation

2017 ◽  
Vol 7 (1) ◽  
pp. 41
Author(s):  
Yeong-Bin Kim ◽  
Hyung-Doo Park ◽  
Rihwa Choi ◽  
Soo-Youn Lee ◽  
Chang-Seok Ki ◽  
...  
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Molecular Genetic ◽  
Genetic Investigation ◽  
Juvenile Form ◽  
Early Juvenile ◽  
Korean Patient

scholarly journals Transspecies beak color polymorphism in the Darwin’s finch radiation

2021 ◽  
Author(s):  
Erik D. Enbody ◽  
C. Grace Sprehn ◽  
Arhat Abzhanov ◽  
Huijuan Bi ◽  
Mariya P. Dobreva ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Introgressive Hybridization ◽  
Color Polymorphism ◽  
Regulatory Mutation ◽  
Genetic Investigation ◽  
Interspecific Introgression ◽  
Evolutionary Diversification ◽  
Ecological Selection ◽  
Balanced Polymorphism ◽  
As Species

AbstractCarotenoid-based polymorphisms are widespread in populations of birds, fish, and reptiles1, but little is known of how they affect fitness and are maintained as species multiply2. We report a combined field and molecular-genetic investigation of a nestling beak color polymorphism in Darwin’s finches. Beaks are pink or yellow, and yellow is recessive3. Here we show that the polymorphism arose in the Galápagos approximately half a million years ago through a regulatory mutation in the BCO2 gene, and is shared by 14 descendant species. The frequency of the yellow genotype is associated with cactus flower abundance in cactus finches, and is altered by introgressive hybridization. The polymorphism is most likely a balanced polymorphism, maintained by ecological selection pressures associated with diet, and augmented by occasional interspecific introgression. Polymorphisms that are hidden as adults, as here, may contribute to evolutionary diversification in underappreciated ways in other systems.

scholarly journals Molecular genetic investigation of neurogenesis in the rat auditory pathway from postnatal days until adulthood

2021 ◽  
Author(s):  
J Engert ◽  
J Doll ◽  
J Völker ◽  
M Scholl ◽  
L Bieniussa ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Auditory Pathway ◽  
Genetic Investigation
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