Current genetic counseling in China / 北京大学学报(医学版)

In 1975, the American Society of Human Genetics adopted the following definition of genetic counseling: ge-netic counseling is a communication process which deals with the human problems associated with the occurrence orrisk of occurrence of a genetic disorder in a family. This definition indicates that genetic counseling is the deliveryof information about genetic diseases, including genetic risks, natural history of the disease, and clinical manage-ment of the disease, to patients and their families. Although genetic counseling is not a newword for both westerncountries and China, the development of which is quite different. Many excellent genetic counseling programs havebeen developed since then in developed countries, whereas there is no formal one in China. In the United States,professionals who carry outgenetic counseling musthave taken a professional training and have had the certificate ofAmerican Board of Genetic Counseling (ABGC) (www.abgc.net).

Principal genetic syndromes and autism: from phenotypes,proteins to genes / 北京大学学报(医学版)

Autism is a neurodevelopmental disorder characterized by impairments in social skills, language, and behavior. It is now clear that autism is not a disease, but a syndrome characterized by phenotypic and genetic complexity. The etiology of autism is still poorly understood. Available evidence from a variety of sources strongly suggests that many genetic disorders are frequently associated with autism for their similar phenotypes. Based on this fact, this review begins by highlighting several principal genetic syndromes consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, Pader-Willi syndrome, Rett syndrome, Down syndrome and Turner syndrome). These genetic disorders include both chromosome disorders and single gene disorders. By comparing the similar phenotype, protein marker and candidate genes, we might make some breakthrough in the mechanism of autism and other genetic disorders.

The role of biomarkers CK7, Vim and P53 in the development of subtypes of endometrial carcinoma / 北京大学学报(医学版)

Objective: Analyzing the protein expression of biomarkers CK7, Vim, and P53 to investigate their possible pathogenic roles in the development of variant subtypes of endometrial carcinoma. Methods:Biomarkers CK7, Vim, and P53 were immunohistochemistry-stained among 131 endometrial carcinoma specimens including 93 endometroid, 8 adenoacanthoma, and 32 rare subtypes of adenosquamas carcinoma, clean cell carcinoma, and papillary carcinoma, which had been confirmed clinically and pathologically, and studied statistically with Fisher test and Cochran-Mantel-Haenszel (CMH) Test. Results: Positive correlation was demonstrated among CK7, Vim, and P53 expression levels. The CK7 protein expression is increased, while the Vim and P53 are decreased in the subtype of endometrioid carcinoma. The clinical staging of endometriroid carcinoma is positively correlated with the expression of Vim. The positive rate of Vim and P53 is correlated with cytological differentiation of the carcinoma cells. Conclusion:Biomarkers CK7, Vim, and P53 are playing pathogenic roles, assuming as a mutual transcriptional modulator, and Vim but not P53 is likely the favorable prognostic factor, in the development of variant subtypes of endometrial carcinoma in addition to a evaluating the treatment.

Laminopathies —one gene, multiple diseases / 北京大学学报(医学版)

Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.

Molecular genetics of Charcot-Marie-Tooth disease / 北京大学学报(医学版)

Charcot-Marie-Tooth disease (CMT) affects the peripheral nervous system. It is generally inherited in an autosomal dominant pattern, but also is inherited in recessive or an X-linked pattern. The degree of severity can vary greatly from patient to patient, even within the same family. Traditionally, the different classes of CMT have been divided into demyelinating forms and axonal forms. Until 10 years ago, the genetic basis of CMT disease was largely unknown. An intrachromosomal duplication on chromosome 17 was found in 1991, and a point mutation in the peripheral myelin protein-22 gene was discovered in 1992. The work starts a new stage of the molecular basis of this large group of peripheral neuropathies. In this review, we will summarize what is known today about the genetics of CMT, and what we have learned about the underlying disease mechanisms.