We studied a Becker muscular dystrophy (BMD) family with a manifesting carrier. Proximal muscle weakness, pseudohypertrophy of the calves, significantly elevated serum creatine kinase and dystrophic alterations in the muscle biopsy were the characteristic phenotypical features of this manifesting carrier. The recombinant DNA study showed a recombinant chromosome with a crossover between pERT 87-8 and pERT J-Bir in the manifesting carrier. However, the proximal part of the short arm of her X chromosome was identical to a non-manifesting carrier (her sister) and to her affected brother. For this reason, we assumed the BMD mutation was proximal to the crossover. The dystrophin cDNA probes showed no deletion of DMD/BMD gene.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1600-0404.1989.tb03821.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
and Variant Alleles Affect Susceptibility to Infection and Severity of -Associated Clinical Manifestations.
Int J Mol Sci
January 2025
Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Considering the mutual relationship between redox disbalance and inflammation in (HP) infection, we aimed to evaluate whether the polymorphisms in antioxidant glutathione transferases genes ( rs1695, rs1138272, rs4925 and rs156697) modify susceptibility to HP infection, as well as the severity of HP-associated gastric manifestation development. Therefore, GST gene polymorphisms were determined via the appropriate PCR in 101 HP-positive and 107 HP-negative patients. Our results show that carriers of the variant genotype (rs1695) or at least one variant allele (rs1138272) were more prone to the development of HP-positive gastritis compared with reference allele carriers (OR = 3.
View Article and Find Full Text PDFNationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.
BMC Med Genomics
January 2025
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.
Background: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene. The disorder exhibits variable clinical severity, with the classical form manifesting as salt-wasting crisis in neonates, while inducing ambiguous genitalia in females and precocious puberty in males through simple virilization. Identifying at-risk couples during the preconception stage holds significance for optimizing reproductive choices.
View Article and Find Full Text PDF[Frameshift mutation in gene causes amelogenesis imperfecta].
Beijing Da Xue Xue Bao Yi Xue Ban
February 2025
Department of Cariology and Endodontology, Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing 100081, China.
Objective: To analyze gene mutation found in a pedigree with clinical features and inheritable pattern consistent with amelogenesis imperfecta (AI) in China, and to study the relationship between its genotype and phenotype.
Methods: Clinical and radiological features were recorded for the affected individuals. Peripheral venous blood samples of the patient and family members were collected for further study, and the genomic DNA was extracted to identify the pathogenic gene.
Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.
BMJ Open
January 2025
Genetics and Molecular Pathology, SA Pathology, North Adelaide, South Australia, Australia
Objectives: To determine the diagnostic yield of cystic fibrosis (CF) using a two-tiered genetic testing approach. Although newborn screening includes CF, this typically only covers a selection of common genetic variants, and with over 2000 reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, we hypothesised that patients will be missed and present clinically later in life.
Design: A retrospective study over a 5-year period (January 2018-December 2022).
Virus-Mimicking Polymer Nanocomplexes Co-Assembling HCV E1E2 and Core Proteins with TLR 7/8 Agonist-Synthesis, Characterization, and In Vivo Activity.
J Funct Biomater
January 2025
Institute for Bioscience and Biotechnology Research, University of Maryland Rockville, Rockville, MD 20850, USA.
Hepatitis C virus (HCV) is a major public health concern, and the development of an effective HCV vaccine plays an important role in the effort to prevent new infections. Supramolecular co-assembly and co-presentation of the HCV envelope E1E2 heterodimer complex and core protein presents an attractive vaccine design strategy for achieving effective humoral and cellular immunity. With this objective, the two antigens were non-covalently assembled with an immunostimulant (TLR 7/8 agonist) into virus-mimicking polymer nanocomplexes (VMPNs) using a biodegradable synthetic polyphosphazene delivery vehicle.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!