Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China.

BACKGROUND: Citrin deficiency (CD) is an autosomal recessive disease resulting from biallelic mutations of the SLC25A13 gene. This study aimed to investigate the molecular epidemiological features of CD in the Guangdong and Shaanxi provinces of China. METHODS: A total of 3,409 peripheral blood samples from Guangdong and 2,746 such samples from Shaanxi province were collected. Four prevalent SLC25A13 mutations NG_012247.2 (NM_014251.3): c.852_855del, c.1638_1660dup, c.615+5G>A, and c.1751-5_1751-4ins(2684) were screened by using the conventional polymerase chain reaction (PCR)/PCR-restriction fragment length polymorphism and newly-developed multiplex PCR methods, respectively. The mutated SLC25A13 allele frequencies, carrier frequencies, and CD morbidity rates were calculated and then compared with the Chi-square and Fisher's exact tests. RESULTS: The mutations were detected in 68 out of 6,818 SLC25A13 alleles in Guangdong and 29 out of 5,492 alleles in the Shaanxi population. The carrier frequencies were subsequently calculated to be 1/51 and 1/95, while the CD morbidity rates were 1/10,053 and 1/35,865, in the 2 populations, respectively. When compared with the Shaanxi population, Guangdong exhibited a higher frequency of mutated SLC25A13 allele (68/6,818 vs. 29/5,492, χ2=8.570, P=0.003) in general, with higher c.852_855del (54/6,818 vs. 13/5,492, χ2=17.328, P=0.000) but lower c.1751-5_1751 -4ins(2684) (2/6,818 vs. 9/5,492, P=0.015) allele frequencies. The distribution of c.615+5G>A and c.1638_1660dup between the 2 provinces, as well as all 4 prevalent mutations among different geographic regions within the 2 provinces, did not differed significantly. CONCLUSIONS: Our findings depicted the CD molecular epidemiological features in Guangdong and Shaanxi populations, providing preliminary but significant laboratory evidences for the subsequent CD diagnosis and management in the 2 provinces of mainland China.

[Survey of root canal curvature in maxillary anterior teeth].

OBJECTIVE: To investigate root canal curvature in maxillary anterior teeth. METHODS: About 400 human maxillary anterior teeth were examined by indirect digital radiography both from labiolingual and mesiodistal directions. The root canal curvature was analyzed. RESULTS: The major sort of maxillary anterior teeth was type I. The proportion of maxillary center incisors, maxillary lateral incisors, maxillary canines curved in mesiodistal were 11.17%, 16.19% and 21.43%, in labio-lingual were 39.59%, 40.00% and 29.59%, both in labiolingual and mesiodistal directions were 4.60%, 35.24% and 24.49%. About 50% of maxillary anterior teeth were moderate curve, the degree of root canal curvature of maxillary canines was larger than that of maxillary incisors, and radius of curvature and length of the curved part of root canal of maxillary canines were smaller than that of maxillary incisors. CONCLUSION: Root canal curvature in maxillary anterior is complex, especially in maxillary canine. In order to improve quality of root canal therapy, we need to understand types of root canal, degree of root canal curvature and radius of curvature completely.