ABSTRACT
Objective To analyses the mutation of connexin30gene in a pedigree with hidrotic ec-todermal dysplasia(HED).Methods Blood samples were obtained from18affected and16normal individ-uals in this family.Mutation scanning was carried out by PCR and direct sequencing.Results A transition,at position on connexin30gene31(G→A),leading to a missense mutation(G11R),was detected in18patients,but was not found in16normal individuals in this HED family and in188unrelated,population-matched control individuals,which indicated that it did not represent common polymorphism.Conclusion A missense mutation(31G→A)in the connexin30gene has been determined in the pedigree with HED,which is probably one of the molecular bases of the pathogenesis of the disease.
ABSTRACT
Objective To detect ED1 gene mutations in the families with X-linked hypohidrotic ec-todermal dysplasia (XLHED). Methods Blood samples were obtained from 2 pedigrees. All 8 exons and flanking intronic boundaries of ED1 gene were amplified with polymerase chain reaction technique and then directly sequenced. Results Two mutations were found in ED1 gene. One was splicing mutation (IVS8+5 del G), the other was missense mutation (A959G). None of the mutations was found in normal individuals of two XLHED families and in 188 unrelated, population-matched control individuals. Conclusion Out of the ED1 gene mutations identified in 2 Chinese XLHED families, IVS8+5del G is a novel mutation.
ABSTRACT
<p><b>OBJECTIVE</b>To disclose the molecular genetic mechanism of type 2 diabetes mellitus and to determine chromosomal location of type 2 diabetes mellitus gene.</p><p><b>METHODS</b>Genome-wide screening and genotyping were conducted in a family of type 2 diabetes mellitus, and linkage analysis by LINKAGE and GENEHUNTER package was used to determine the potential chromosomal location of the family of type 2 diabetes mellitus gene.</p><p><b>RESULTS</b>Evidence of linkage was found at the long arm of chromosome 2. The maximum Lod score is 1.80 and non-parameter Lod score is 5.06.</p><p><b>CONCLUSION</b>The type 2 diabetes mellitus gene of the family is located at 2q.</p>
Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Age of Onset , Chromosome Mapping , Chromosomes, Human, Pair 2 , Genetics , Diabetes Mellitus, Type 2 , Genetics , Family Health , Genetic Linkage , Genetic Predisposition to Disease , Genetics , Genome, Human , Lod Score , Microsatellite Repeats , PedigreeABSTRACT
Objective To identify a psoriasis susceptibility locus on chromosome4q in a Chinese Han population.Methods The genome search was performed using12microsatellite spanning chromosome4q in64Chinese Han families(372family members)comprising197affected and175unaffected individuals.GENEHUNTER was used for the parametric and non-parametric linkage analyses.Results(1)Non-paramet-ric linkage analyses:single-point analyses revealed that two adjacent loci on chromosome4q D4S413and D4S1597had evidence of linkage,with NPL-scores of2.04and2.23,and P values of0.021and0.014re-spectively.Multi-point analyses showed a peak NPL-score of3.44and the corresponding P value of0.00056at157.9cM where D4S413located.Moreover,NPL score of more than3was found with a range from155.1cM to172.3cM.(2)Parametric linkage analyses revealed a LOD score of3.70,a heterogeneity LOD score of4.35and a high proportion of linked families(?)of85%under the assumption of a dominant model with dis-ease-allele frequency of0.0062and penetrance of10%at D4S1597.Conclusion Chromosome4q contains genes involved in the susceptibility to psoriasis vulgaris in a Chinese Han population.
ABSTRACT
Objective To identify the genetic locus for disseminated superficial actinic porokeratosis(DSAP).Methods Genome DNA was extracted from the whole blood of the family members of a pedigree of DSAP.Genotyping on chromosome12q that had been identified was performed by using7microsatellite mark-ers to scan the family members of DSAP and analysed with LINKAGE(5.1Version).Results A maximum2-point lod score of5.15with marker D12S79at a recombination fraction(?)=0.00was found.Conclusion Our study supports that DSAP gene localizes at the long arm of chromosome12,which was first reported in the literature.