Related Experiment Video
Updated: May 10, 2026
14:06
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
The perils of SNP microarray testing: uncovering unexpected consanguinity.
Beth A Tarini1, Laura L Konczal, Aaron J Goldenberg
1Child Health Evaluation and Research (CHEAR) Unit, Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA.
Pediatric Neurology
|July 6, 2013
Summary
Single nucleotide polymorphism (SNP) microarrays can detect consanguinity, revealing unexpected familial relationships. Genetic testing requires careful pre-test counseling to address ethical and psychological implications.
Area of Science:
- Genetics
- Medical Diagnostics
Background:
- Single nucleotide polymorphism (SNP) microarrays are used to identify genetic deletions or duplications.
- These microarrays can also reveal regions of homozygosity, suggesting consanguinity.
- Increasing use by non-geneticists necessitates awareness of ethical, legal, and social issues related to consanguinity findings.
Observation:
- An infant with multiple congenital anomalies underwent SNP microarray testing.
- The test identified large homozygous regions, indicating identity by descent consistent with consanguinity.
Findings:
- The results suggested a relationship between second or third-degree relatives.
- The mother disclosed a history of incest with her half-brother around the time of conception.
Implications:
- Pre-test consent for SNP microarray should include the possibility of revealing consanguinity.
- Healthcare providers must be prepared for the psychological, legal, and ethical challenges associated with such findings.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...