Related Experiment Video
Updated: Jun 17, 2026
08:27
A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
Published on: May 22, 2019
Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies
S J Scheinman1, M A Pook, C Wooding
1Medical Research Council Molecular Medicine Group, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom.
The Journal of Clinical Investigation
|June 1, 1993
Summary
Researchers located the gene causing X-linked recessive nephrolithiasis, a condition leading to kidney failure. This discovery in the Xp11.22 region is a key step toward understanding the disorder's biochemical basis and improving renal care.
Area of Science:
- Genetics
- Nephrology
- Molecular Biology
Background:
- X-linked recessive nephrolithiasis presents with kidney stones and renal tubular dysfunction in childhood, progressing to adult renal failure.
- The underlying genetic defect and chromosomal location of this disorder remain unidentified.
- Identifying the gene's location is crucial for understanding the biochemical pathways involved in renal tubular function and mineral homeostasis.
Purpose of the Study:
- To determine the chromosomal location of the gene responsible for X-linked recessive nephrolithiasis.
- To advance the understanding of the biochemical basis of this renal disorder.
- To facilitate future research into renal tubular function and mineral balance.
Main Methods:
- Linkage analysis was performed on a five-generation family with 102 members.
- Genetic markers included X chromosome restriction fragment length polymorphisms and microsatellite polymorphisms.
- Statistical analysis, including LOD score calculation, was used to establish linkage.
Main Results:
- Linkage was established between X-linked recessive nephrolithiasis and the DXS255 locus.
- The gene was localized to the pericentromeric region of the X chromosome short arm (Xp11.22).
- Multilocus analysis placed the gene distal to DXS255 and proximal to the Duchenne muscular dystrophy locus.
Conclusions:
- The gene causing X-linked recessive nephrolithiasis is mapped to Xp11.22.
- Further characterization of this gene will elucidate factors controlling renal tubular function.
- This finding is vital for understanding mineral homeostasis and developing targeted therapies.
Related Concept Videos
01:35Pedigree Analysis
Overview
01:19X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:19X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...