Identification of a Novel <i>COL4A5</i> Mutation in a Family with X-Linked Alport Syndrome.

<p>A. Exon 25 sequencing from a normal male individual. B. Sequencing from a heterozygous female. C. G641E is a mutation that results in 48 abnormal amino acid residues in the COL4A5 protein.</p

Pedigree of a Kazakh Family with X-Linked Alport Syndrome.

<p>Affected individuals with kidney disease are shown with blackened squares (males) and circles (females). Normal individuals are shown with empty squares (males) and circles (females). Crossed squares or circles denote deceased individuals.</p

The Most frequent of DRB1-DQA1-DQB1 extended haplotypes and their frequencies in the Kazakh population (Astana).

a<p>Found in Buryats (22.0%); Khanty-Mansi (16.9%) Kazakhs (China) (8.3%).</p>b<p>Found in Italians (Sardinia) (25.3%); Russia (North-west) (9.0%); Kazakhs (China) (13.1%).</p>c<p>Found in Khanty-Mansi (8.1%); Italians (7.6%), Todzhinians (6.8%); Russia (North-west) (5.5%). Kazakhs (China) (4.8%);</p>d<p>Found in South Korea (2.9%).</p>e<p>Not found in any other population.</p>f<p>Found in Todzhinians (22.5%); English (14.1%), Australia Aborigine (10.0%); Russia (North-west) (9.0%); Kazakhs (China) (2.4%).</p>g<p>Found in Italians (14.1%); Slovenes (11.4%).</p>h<p>Found in Australia Aborigine (7.0%).</p>i<p>Found in Japan (8.2%); Mongolians (6.5%); Kazakhs (China) (2.4%).</p>j<p>Found in Khanty-Mansi (8.1%); Italians (7.6%); Kazakhs (China) (4.8%).</p>k<p>Found in Cameroon Yaounde (1.2%).</p>l<p>Found in Italians (1.9%); Tuva (1.1%).</p><p>The Most frequent of DRB1-DQA1-DQB1 extended haplotypes and their frequencies in the Kazakh population (Astana).</p

Baseline data on number of alleles in the Kazakh population (Astana) and average heterozygosity.

<p>Baseline data on number of alleles in the Kazakh population (Astana) and average heterozygosity.</p

Neighbor-joining dendrogram based on HLA allele frequencies.

<p>Dendroram constructed by the neighbor-joining method showing the relationship between Kazakh populations with other populations based on the frequencies of HLA-DRB1 loc.</p

Allelic frequency of HLA-DRB1, -DQA1 and -DQB1 loci in the Kazakh population (Astana).

<p>Allelic frequency of HLA-DRB1, -DQA1 and -DQB1 loci in the Kazakh population (Astana).</p

Haplotype frequency and significant linkage disequilibrium parameter of HLA two-loci haplotypes in Kazakh population (Astana).

a<p>Number of times;</p>b<p>Haplotype frequency;</p>c<p>D Linkage disequilibrium;</p>d<p>Only t values ≥ 2.0 were considered significant.</p><p>Haplotype frequency and significant linkage disequilibrium parameter of HLA two-loci haplotypes in Kazakh population (Astana).</p

Territory of the Republic of Kazakhstan.

<p>Territory of the Republic of Kazakhstan.</p