Related Experiment Video
Updated: Apr 15, 2026

Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
Hereditary systemic immunoglobulin light-chain amyloidosis.
Merrill D Benson1, Juris J Liepnieks2, Barbara Kluve-Beckerman2
1Indiana University School of Medicine, Department of Pathology and Laboratory Medicine, Indianapolis, IN: and Richard L. Roudebush VA Medical Center, Indianapolis, IN.
A novel hereditary amyloidosis, caused by a specific mutation in the immunoglobulin kappa light chain gene (Ser131Cys), leads to renal failure. This genetic form of amyloid light-chain amyloidosis can be misdiagnosed, highlighting the need for accurate genetic testing.
Area of Science:
- Genetics
- Nephrology
- Immunology
Background:
- Systemic amyloidosis caused familial renal failure.
- Previous genetic studies failed to identify the cause.
- Amyloid fibrils were isolated from renal tissue.
Purpose of the Study:
- To identify the genetic basis of hereditary systemic amyloidosis.
- To characterize the mutation responsible for the disease.
Main Methods:
- Amino acid sequencing of amyloid protein.
- Protein isolation and characterization from serum.
- DNA analysis for mutation confirmation and family screening.
Main Results:
- Amyloid protein sequences were compatible with immunoglobulin kappa light-chain.
- A mutation (Ser131Cys) in the kappa light-chain constant region was identified.
- The Ser131Cys mutation was confirmed by DNA analysis and found in affected family members.
Conclusions:
- Identified a hereditary form of amyloid light-chain (AL) amyloidosis due to the Ser131Cys mutation.
- This hereditary amyloidosis is distinct from plasma cell dyscrasia-related AL amyloidosis.
- Misdiagnosis of this hereditary condition may lead to inappropriate chemotherapy.
More Related Videos
Related Concept Videos
Amyloid Fibrils
Amyloid Fibrils
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
Lysosomal Hydrolases
Immunodeficiency Diseases
There are three main causes of immunodeficiency...
Nephrotic Syndrome I : Introduction
Antibody Structure

