A unique form of autosomal dominant cataract explained by gene conversion between β-crystallin B2 and its pseudogene [3]

Journal of Medical Genetics

Volumn 38, Issue 6, 2001, Pages 392-396

  Vanita, ^a   Sarhadi, V ^a   Reis, A ^a   Jung, M ^a   Singh, D ^a   Sperling, K ^a   Singh, J R ^a   Burger J ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CRYSTALLIN;

AUTOSOMAL DOMINANT INHERITANCE; CATARACT; CHROMOSOME 22; GENE CONVERSION; GENETIC LINKAGE; HUMAN; LETTER; PRIORITY JOURNAL;

BASE SEQUENCE; CATARACT; CHILD; CRYSTALLINS; FAMILY HEALTH; FEMALE; GENE CONVERSION; GENES, DOMINANT; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PSEUDOGENES; SEQUENCE HOMOLOGY, NUCLEIC ACID; VARIATION (GENETICS);

EID: 0034987735     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (18)

1. The genetics of childhood cataract
2. Clinical and genetic heterogeneity in autosomal dominant cataract
3. Autosomal dominant congenital cataract associated with a missense mutarion in the human alpha crystallin gene CRYAA
4. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene
5. The γ-crystallins and human cataract: A puzzle made clearer
6. Progressive juvenile-onset punctate cataracts caused by mutation of the gamma-D-crystallin gene
7. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2
8. Genetic heterogeneity of the Coppock-like cararact: A mutation in CRYBB2 on chromosome 22q11.2
9. The DNA sequence of human chromosome 22
10. A high-density YAC contig map of human chromosome 22
11. Short gene conversions in the human fetal globin gene region: A by-product of chromosome pairing during meiosis?
12. A possible example of gene conversion with a common beta-thalassemia mutation and chi sequence present in the beta-globin gene
13. A novel gene, Translin, encodes a recombination hotspot binding protein associated with chromosomal translocations
14. Hypervariable minisatellite regions in human DNA
15. Origin of the beta S-globin gene in blacks: The contribution of recurrent mutation or gene conversion or both
16. Recent gene conversion involving bovine vasopressin and oxytocin precursor genes suggested by nucleotide sequence
17. Gene conversion in steroid 21-hydroxylase genes