Guo Y

Genetic study of indirect inguinal hernia.

We performed a genetic analysis of 280 families with congenital indirect inguinal hernia ascertained in Shandong province. The multifactorial threshold model and segregation analysis were applied to these families to investigate the mode of inheritance of congenital indirect inguinal hernia. Our results indicate that congenital indirect inguinal hernia is not compatible with a multifactorial threshold model, and the frequent vertical transmission and high segregation ratio suggest autosomal dominant inheritance with incomplete penetrance and sex influence. Through further pedigree analysis of the multiple case families with at least two closely related affected members, we noted preferential paternal transmission of the disease gene, which might suggest the role of genomic imprinting in the aetiology of this condition.

A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads

Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominantly inherited disease. We studied a family from Shandong, China, having patients suffering from EPPK with a unique symptom—knuckle pads. We noticed that both the hyperkeratosis and knuckle pads in the Chinese family were friction‐related. Candidate gene analysis was carried out using linkage analysis and direct sequencing. A novel L160F mutation in keratin 9 was found, and its effects on the secondary structure of keratin 9 were studied. We predict that the L160F mutation is also responsible for the knuckle pads in the family. Our study provides a new clue for the study of the function of keratin 9.

A locus for nonspecific X-linked mental retardation mapped to a 22.3 cM region of Xp11.3-q22.3.

By using several microsatellite markers scattered along the X chromosome, we studied a Chinese family with nonspecific X‐linked mental retardation (MRX84) to search for a region including the MRX84 locus that was linked to the markers. Two‐point linkage analysis demonstrated linkage between the disorder and several markers located at Xq22.2, with maximum LOD score Zmax = 2.41 at recombination fraction θ = 0 for DXS1191 and DXS1230, respectively. Recombination events were observed with flanking markers DXS8080 and DXS456, located at Xp11.3 and Xq22.3, respectively, and a region of approximately 22.3 cM was defined. Accordingly, markers distal to Xp11.3 and Xq22.3 segregated independently of the disease. The localized region observed in this Chinese family overlaps with 29 other MRX loci previously reported in Xp11.3‐q22.3. These results should contribute to the identification of the disease gene for the MRX84 disorder.