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  • Article
    Lu F, Huang L, Lei C, Sha G, Zheng H, Liu X, Yang J, Shi Y, Lin Y, Gong B, Zhu X, Ma S, Qiao L, Lin H, Cheng J, Yang Z.
    PLoS One. 2013;8(11):e78274.
    PURPOSE: This study was intended to identify the disease causing genes in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.
    METHODS: A genome scan analysis was conducted in this family for disease gene preliminary mapping. Snapshot analysis of selected SNPs for two-point LOD score analysis for candidate gene filter. Candidate gene PRPF31 whole exons' sequencing was executed to identify mutations.
    RESULTS: A novel nonsense mutation caused by an insertion was found in PRPF31 gene. All the 19 RP patients in 1085 family are carrying this heterozygous nonsense mutation. The nonsense mutation is in PRPF31 gene exon9 at chr19:54629961-54629961, inserting nucleotide "A" that generates the coding protein frame shift from p.307 and early termination at p.322 in the snoRNA binding domain (NOP domain).
    CONCLUSION: This report is the first to associate PRPF31 gene's nonsense mutation and adRP and JMD. Our findings revealed that PRPF31 can lead to different clinical phenotypes in the same family, resulting either in adRP or syndrome of adRP and JMD. We believe our identification of the novel "A" insertion mutation in exon9 at chr19:54629961-54629961 in PRPF31 can provide further genetic evidence for clinical test for adRP and JMD.
    Digital Access Access Options
  • Book
    edited by Ronald Cohn, Stephen Scherer, Ada Hamosh.
    Summary: First published in 1966, Thompson and Thompson Genetics and Genomics in Medicine has become an essential textbook for medical students, genetic counseling students, students in laboratory medicine, and more advanced trainees. With its focus on fundamental principles in human genetics and genomics and their application to medicine, the book has served many as a well-thumbed resource they return to over and over. Such students can continue to depend on this valuable text, joining those in newer fields of genome data analysis for all they need to know about genetics and genomics throughout their basic science training, clinical placements and beyond. Coverage includes new discoveries--such as the functional roles of non-coding RNAs, chromatin regulation and epigenetics--latest technologies, and new diagnoses they are enabling.

    Contents:
    Introduction
    Introduction to the Human Genome
    The Human Genome : Gene Structure and Function
    Human Genetic Diversity : Human Genetic Diversity: Genomic Variation
    Principles of Clinical Cytogenetics and Genome Analysis
    The Chromosomal and Genomic Basis of Disease : Disorders of the Autosomes and Sex Chromosomes
    Patterns of Single-Gene Inheritance
    Principles of Clinical Epigenetics
    Complex Inheritance of Common Multifactorial Disorders
    Population Genetics for Genomic Medicine
    Identifying the Genetic Basis for Human Disease
    The Molecular Basis of Genetic Disease
    The Molecular, Biochemical, and Cellular Basis of Genetic Disease
    The Treatment of Genetic Disease
    Developmental Genetics and Birth Defects
    Cancer Genetics and Genomics
    Genetic Counseling and Risk Assessment
    Preconception and Prenatal Screening and Diagnosis
    Application of Genomics to Medicine and Individualized Health Care
    Ethical and Social Issues in Genetics and Genomics.
    Digital Access ClinicalKey [2023], ©2024