Related Experiment Video

Updated: Mar 5, 2026

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
07:50

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

Published on: September 18, 2020

6.2K

Correlation between genotype and phenotype in three families with Peutz-Jeghers Syndrome

Yanli Zhang1, Yao Ke2, Xueni Zheng1

  • 1State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Diseases, Shaanxi Key Laboratory of Oral Diseases, Department of Oral Biology, Clinic of Oral Rare and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China.

Experimental and Therapeutic Medicine
|March 30, 2017
PubMed

Insights

Peutz-Jeghers syndrome (PJS) is a hereditary disorder. A study found that STK11 gene mutations in PJS patients show a dose-dependent relationship with clinical symptoms, and early oral pigmentations indicate severe gastrointestinal issues.

Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Peutz-Jeghers syndrome (PJS) is an inherited disorder characterized by mucocutaneous pigmentations, gastrointestinal polyposis, and increased cancer risk.
  • The genetic basis and genotype-phenotype correlations in PJS remain incompletely understood.
  • This study investigates the genetic factors contributing to PJS in Chinese families.

Purpose of the Study:

  • To identify causative genes for PJS in three Chinese families.
  • To analyze the relationship between genetic mutations and clinical manifestations in PJS patients.
  • To explore potential genotype-phenotype correlations within PJS.

Main Methods:

  • Clinical and genetic analysis of three Chinese families with PJS.
  • DNA extraction from blood samples of PJS patients and controls.
  • Polymerase chain reaction amplification, sequencing, and cloning of STK11, OR4C45, and ZAN genes.

Main Results:

  • A de novo single base deletion (c.842delC) in the STK11 gene was identified in two PJS patients.
  • Clinical presentations correlated with the number of mutant STK11 gene copies in a dose-dependent manner.
  • No pathogenic variants in OR4C45 or ZAN were found, though a new ZAN SNP (c.5768delG) was identified.

Conclusions:

  • A dose-dependent genotype-phenotype relationship exists for STK11 mutations in PJS.
  • Early onset and severe oral pigmentations in PJS suggest significant gastrointestinal involvement.
  • Findings may assist in the diagnosis and management of Peutz-Jeghers syndrome.

Keywords:
Peutz-Jeghers syndromegenotype-phenotype analysisolfactory receptor family 4 subfamily C member 45serine/threonine kinase 11zonadhesin

More Related Videos

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

23.4K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.7K
Pedigree Analysis01:35

Pedigree Analysis

Overview
90.3K
Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
6.0K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
64
X-linked Traits01:19

X-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”.
59.2K
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
31.4K