Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family

Article Abstract:

Chromosome 6-linked autosomal recessive early-onset Parkinsonism, or autosomal recessive juvenile Parkinsonism (AR-JP), has been shown to be linked to chromosome 6q25.2-27 in Japanese families and now in 10 European multiplex families and one Algerian family, with marker D6S305. In one family there is evidence of a small homozygous deletion. The clinical spectrum with maximum age at onset of 58 years and presence of painful dystonia in some patients was found in the study of the European and Algerian families to be broader than previously reported.

Italy, France, Algeria, Health aspects, Europe

---

Autosomal recessive juvenile Parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region

Article Abstract:

In four ethnic groups autosomal recessive juvenile Parkinsonism maps to 6q25.2-q27. Detailed genetic mapping has been carried out in the linked region. Parkinson disease (PD) is a neurodegenerative condition related to degeneration of dopaminergic neurons in the substantia nigra zona compacta. Evidence that genetic factors have a role in PD etiology is growing, although it is probable that there is genetic heterogeneity.

Japan, Saudi Arabia

---

Linkage and association between inflammatory bowel disease and a locus on chromosome 12

Article Abstract:

Researchers have confirmed that inflammatory bowel disease (IBD), that is Crohn's disease (CD) and ulcerative colitis (UC), is linked to chromosome 12. Evidence is from the group of CD-affected relative pairs and the group of UC-affected relative pairs. A positive TDT at D12S83 indicates that the IBD region on the chromosome has been much narrowed.

Ulcerative colitis, Inflammatory bowel diseases, Crohn's disease

Similar abstracts:

• Abstracts: Cloning and functional expression in Escherichia coli of the gene encoding the di- and tripeptide transport protein of Lactobacillus helveticus
• Abstracts: Dorsoventral patterning in Xenopus: inhibition of ventral signals by direct binding of chordin to BMP-4. Xenopus chordin and Drosophila short gastrulation genes encode homologous proteins functioning in dorsal-ventral axis formation
• Abstracts: The Homothorax homeoprotein activates the nuclear localization of another homeoprotein, Extradenticle, and suppresses eye development in Drosophila
• Abstracts: The spreading of X-inactivation into autosomal material of an X;autosome translocation: evidence for a difference between autosomal and X-chromosomal DNA
• Abstracts: Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family. Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.