Achondroplasia, an autosomal dominant inherited disorder, is one of the most common forms of skeletal dysplasia resulting in disproportionate extreme shortness. Recently, two point mutations, both affecting nucleotide 1138 in the fibroblast growth factor receptor type 3 (FGFR3) gene, were found to be the cause of the disorder. We investigated DNA from 16 Swedish patients with achondroplasia for the presence of these mutations. All patients were found to be heterozygous for the G to A transition at nucleotide 1138. Our data thus support previous reports showing a striking genetic homogeneity, in that almost all achondroplasia patients have the FGFR3 G380R mutation at the protein level.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1651-2227.1996.tb13963.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[Next-generation sequencing-based minimal residual disease detection reveals clonal evolution in pediatric acute B-lymphoblastic leukemia: a case report and literature review].
Zhonghua Xue Ye Xue Za Zhi
December 2024
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China Tianjin Institutes of Health Science, Tianjin 301600, China.
Minimal residual disease (MRD), a crucial biomarker for assessing efficacy and predicting recurrence, refers to residual tumor cells remaining in the body of patients with hematological malignancies who achieved complete remission after treatment. This study aimed to conduct a retrospective analysis of the clinical diagnosis, treatment, and MRD monitoring of a pediatric patient with multiple acute B-lymphocytic leukemia relapses, alongside a review of relevant literature. In this case, Ig rearrangement based on next-generation sequencing (NGS) was more accurate in assessing the MRD level, compared with the traditional method of MRD detection, indicating the risk of earlier relapse and guided interventions in time.
View Article and Find Full Text PDFThe Novel HLA-A*02:1138 Allele, Identified by Sanger Dideoxy Nucleotide Sequencing in a Chinese Individual.
HLA
November 2024
The Department of Hematology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, People's Republic of China.
Article Synopsis
- HLA-A*02:1138 and HLA-A*02:03:01:01 are both variants of the HLA-A gene.
- The key difference between the two variants lies in a single nucleotide change found in exon 2.
- This subtle change may have implications for how these gene variants function in the immune system.
CAT rs1001179 Single Nucleotide Polymorphism Identifies an Aggressive Clinical Behavior in Chronic Lymphocytic Leukemia.
Hematol Oncol
November 2024
Department of Engineering for Innovation Medicine, Section of Biomedicine, University of Verona, Verona, Italy.
Chronic lymphocytic leukemia (CLL) is characterized by an extremely variable clinical course. Although several parameters have been shown to be associated with clinical outcomes in patients with CLL, there remains substantial intragroup clinical heterogeneity in otherwise molecularly and staging homogeneous CLL subgroups. We have recently shown that high catalase (CAT) expression identifies patients with an aggressive clinical course and that higher CAT expression is associated with the presence of the rs1001179 single nucleotide polymorphism (SNP) T allele in the CAT promoter.
View Article and Find Full Text PDFSyncope in Migraine: A Genome-Wide Association Study Revealing Distinct Genetic Susceptibility Variants Across Subtypes.
J Clin Neurol
November 2024
Department of Neurology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
Background And Purpose: Syncope is characterized by the temporary loss of consciousness and is commonly associated with migraine. However, the genetic factors that contribute to this association are not well understood. This study investigated the specific genetic loci that make patients with migraine more susceptible to syncope as well as the genetic factors contributing to syncope and migraine comorbidity in a Han Chinese population in Taiwan.
View Article and Find Full Text PDFCrystal structure of Alzheimer's disease phospholipase D3 provides a molecular basis for understanding its normal and pathological functions.
FEBS J
December 2024
Structural Biology Laboratory, St Vincent's Institute of Medical Research, Fitzroy, Australia.
Human 5'-3' exonuclease PLD3, a member of the phospholipase D family of enzymes, has been validated as a therapeutic target for treating Alzheimer's disease. Here, we have determined the crystal structure of the luminal domain of the enzyme at 2.3 Å resolution, revealing a bilobal structure with a catalytic site located between the lobes.
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!